ClinVar Miner

List of variants reported as likely benign by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 489
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_003243.5(TGFBR3):c.2329C>T (p.Pro777Ser) rs2228363 0.00708
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616 0.00551
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_003243.5(TGFBR3):c.55A>G (p.Thr19Ala) rs147586574 0.00396
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_001352005.2(NTM):c.937G>A (p.Val313Met) rs201653643 0.00170
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_001352005.2(NTM):c.1004C>T (p.Ser335Leu) rs139579932 0.00113
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_003243.5(TGFBR3):c.453G>A (p.Arg151=) rs17883665 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_003243.5(TGFBR3):c.935T>C (p.Met312Thr) rs149079126 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767 0.00048
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile) rs143159512 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_001844.5(COL2A1):c.762+20C>A rs199807767 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_002474.3(MYH11):c.1034-12T>G rs184847335 0.00020
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832 0.00017
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000089.4(COL1A2):c.2836-17C>T rs370073620 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.1630-13T>C rs370547604 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_080680.3(COL11A2):c.813C>T (p.Leu271=) rs143505163 0.00012
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg) rs150440246 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001613.4(ACTA2):c.606C>T (p.Phe202=) rs143771352 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907 0.00010
NM_001352005.2(NTM):c.527-4G>A rs375999981 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_002474.3(MYH11):c.585G>A (p.Leu195=) rs146695946 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu) rs147328015 0.00010
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_001999.4(FBN2):c.5549-18G>A rs371995872 0.00009
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_000093.5(COL5A1):c.3852+9C>T rs548696863 0.00008
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007 0.00008
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val) rs777265470 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 0.00006
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714 0.00006
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=) rs368399445 0.00006
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_002474.3(MYH11):c.1764G>A (p.Ala588=) rs375133214 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_002474.3(MYH11):c.3858+13C>T rs375738696 0.00006
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) rs768867882 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083 0.00006
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) rs776975714 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924 0.00006
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro) rs145871842 0.00006
NM_000093.5(COL5A1):c.2034+18G>C rs200055343 0.00005
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618 0.00005
NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 0.00005
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171 0.00005
NM_080680.3(COL11A2):c.4662C>T (p.Ile1554=) rs375518774 0.00005
NM_000088.4(COL1A1):c.2235+15C>T rs754442679 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) rs376722458 0.00004
NM_001844.5(COL2A1):c.969+13A>G rs752733598 0.00004
NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser) rs767533401 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_017668.3(NDE1):c.*631A>G rs373371913 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) rs374853330 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290 0.00003
NM_000393.5(COL5A2):c.1923+11A>G rs368776400 0.00003
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345 0.00003
NM_001110556.2(FLNA):c.6380-17G>A rs200764111 0.00003
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) rs367655833 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001844.5(COL2A1):c.2194-10C>T rs779541449 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_006258.4(PRKG1):c.951A>T (p.Thr317=) rs770604607 0.00003
NM_017617.5(NOTCH1):c.2354-14C>A rs376797282 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698 0.00003
NM_080680.3(COL11A2):c.1612-16T>A rs530508572 0.00003
NM_000093.5(COL5A1):c.3258+7C>A rs750710374 0.00002
NM_000138.5(FBN1):c.2949C>T (p.Ser983=) rs769307676 0.00002
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) rs782539251 0.00002
NM_001368397.1(FRMPD4):c.981T>C (p.Tyr327=) rs779013797 0.00002
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=) rs765040798 0.00002
NM_053025.4(MYLK):c.1651+14G>A rs762288574 0.00002
NM_080680.3(COL11A2):c.1446+19C>T rs368415304 0.00002
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=) rs766059440 0.00001
NM_000089.4(COL1A2):c.1251+19dup rs762359173 0.00001
NM_000089.4(COL1A2):c.1447G>A (p.Ala483Thr) rs960325497 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) rs771858477 0.00001
NM_000093.5(COL5A1):c.1719+10T>C rs202231659 0.00001
NM_000093.5(COL5A1):c.1881+13C>T rs753635328 0.00001
NM_000093.5(COL5A1):c.233C>T (p.Thr78Ile) rs555131723 0.00001
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=) rs1244102860 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=) rs375157552 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala) rs758035051 0.00001
NM_000393.5(COL5A2):c.2554-5T>C rs373495598 0.00001
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266 0.00001
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn) rs781879374 0.00001
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) rs782412141 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001854.4(COL11A1):c.1899+16T>G rs767808576 0.00001
NM_001854.4(COL11A1):c.2196+15C>T rs768084384 0.00001
NM_001854.4(COL11A1):c.3493-17T>C rs776451100 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.4680C>T (p.Pro1560=) rs377502943 0.00001
NM_002474.3(MYH11):c.1020G>A (p.Glu340=) rs1225127871 0.00001
NM_002474.3(MYH11):c.1794G>A (p.Pro598=) rs749272388 0.00001
NM_003243.5(TGFBR3):c.477T>C (p.His159=) rs766091481 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183 0.00001
NM_003482.4(KMT2D):c.7589C>T (p.Thr2530Ile) rs773982820 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242 0.00001
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_053025.4(MYLK):c.3832-4C>T rs778116028 0.00001
NM_053025.4(MYLK):c.4308G>A (p.Glu1436=) rs1442217314 0.00001
NM_053025.4(MYLK):c.5238+12G>T rs200918890 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_053025.4(MYLK):c.672C>T (p.Asn224=) rs941148082 0.00001
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013 0.00001
NM_080680.3(COL11A2):c.1284+8G>A rs1161495896 0.00001
NM_080680.3(COL11A2):c.2589A>C (p.Thr863=) rs1398934546 0.00001
NM_080680.3(COL11A2):c.3475-19G>A rs755564454 0.00001
NM_000088.4(COL1A1):c.21C>G (p.Leu7=) rs760612687
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr) rs1215940390
NM_000089.4(COL1A2):c.96+13T>C rs1554394649
NM_000090.4(COL3A1):c.1815+16C>T rs1559057656
NM_000090.4(COL3A1):c.2824-9C>T rs1553509204
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.528+12T>C rs1057523141
NM_000093.5(COL5A1):c.4446+14C>T rs1564481400
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=) rs764114280
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile) rs1555397661
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys) rs751035257
NM_000179.3(MSH6):c.524C>T (p.Ala175Val) rs1060502929
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_000393.5(COL5A2):c.150C>T (p.Asn50=) rs1559108847
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_001110556.2(FLNA):c.129G>A (p.Lys43=) rs1569551929
NM_001110556.2(FLNA):c.3207+13T>C rs1557177989
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5275C>T (p.Pro1759Ser) rs1382076574
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001613.4(ACTA2):c.370-19del rs1554841385
NM_001613.4(ACTA2):c.612T>C (p.Thr204=) rs1554841258
NM_001844.5(COL2A1):c.255C>T (p.Cys85=) rs1555169484
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=) rs377079894
NM_001844.5(COL2A1):c.4149G>T (p.Thr1383=) rs750227063
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.4464+17G>A rs970605834
NM_001999.4(FBN2):c.168C>T (p.Gly56=) rs778237524
NM_001999.4(FBN2):c.1849+5G>A rs1561426412
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.3517A>T (p.Thr1173Ser) rs1554123061
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=) rs754193286
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5800+19T>C rs1027122765
NM_001999.4(FBN2):c.7771A>C (p.Thr2591Pro) rs869025429
NM_002474.3(MYH11):c.2967C>G (p.Val989=) rs1567717006
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) rs748529935
NM_003238.6(TGFB2):c.471A>G (p.Pro157=) rs1558248483
NM_003243.5(TGFBR3):c.1076-16CTT[2] rs565379527
NM_003243.5(TGFBR3):c.385-20C>T rs11466577
NM_003243.5(TGFBR3):c.466G>A (p.Gly156Arg) rs755000509
NM_003482.4(KMT2D):c.11044C>G (p.Gln3682Glu) rs1223171002
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.4(KMT2D):c.5189-13G>A rs375365635
NM_003482.4(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_004612.4(TGFBR1):c.328G>A (p.Glu110Lys) rs1564149227
NM_005902.4(SMAD3):c.1026C>T (p.Ile342=) rs1567003450
NM_006258.4(PRKG1):c.1174-15C>T rs41280442
NM_006258.4(PRKG1):c.1174-7_1174-4del rs762325343
NM_006258.4(PRKG1):c.1545+17C>A rs745349839
NM_014795.4(ZEB2):c.1162C>T (p.Leu388Phe) rs1553961748
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5724C>G (p.Ala1908=) rs555773558
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup) rs762336270
NM_017668.3(NDE1):c.*755G>A rs763714252
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4765+18C>T rs751340849
NM_033360.4(KRAS):c.*44C>T rs1555192443
NM_053025.4(MYLK):c.1189A>G (p.Lys397Glu) rs1553822326
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.3652+7A>G rs1553795288
NM_053025.4(MYLK):c.373+14G>A rs1553833648
NM_080680.3(COL11A2):c.1359+17del rs765250820
NM_080680.3(COL11A2):c.1479A>T (p.Gly493=) rs1554221287
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.4750+19G>T rs1046161149
NM_080680.3(COL11A2):c.91C>T (p.Pro31Ser) rs1554226286
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758

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