ClinVar Miner

List of variants reported as likely pathogenic for not provided by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 453
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter) rs281864840 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) rs62643634 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000942.5(PPIB):c.344-1G>T rs748284900 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1595G>A (p.Arg532Gln) rs758278200 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys) rs867379493 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.5(HBA1):c.326C>A (p.Thr109Asn) rs756810015 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=) rs1374378636 0.00001
NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter) rs749880846 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter) rs777894746 0.00001
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) rs267607175 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
G6PD NARA rs587776730
NC_012920.1:m.4983C>T rs1556422937
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr) rs1567563311
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1883T>C (p.Leu628Pro) rs2148399204
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn) rs2077838704
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg) rs72645367
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala) rs1598296202
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del) rs2144563120
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala) rs1906940342
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp) rs886043749
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg) rs1555572024
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg) rs1278821174
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp) rs72656329
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.1496G>T (p.Gly499Val) rs72658122
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.2042_2059del (p.Val681_Pro686del)
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp) rs72659326
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000090.4(COL3A1):c.1663-1G>A rs749145939
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000092.5(COL4A4):c.3124G>A (p.Gly1042Ser)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000095.3(COMP):c.1675G>A (p.Glu559Lys) rs1568554484
NM_000132.4(F8):c.101A>T (p.Asp34Val)
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1247C>T (p.Pro416Leu)
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
NM_000132.4(F8):c.1639T>C (p.Cys547Arg)
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1808G>A (p.Ser603Asn)
NM_000132.4(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.4(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)
NM_000132.4(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.4(F8):c.5941G>A (p.Val1981Met)
NM_000132.4(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.4(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
NM_000132.4(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.4(F8):c.881C>G (p.Thr294Arg)
NM_000133.4(F9):c.1229A>T (p.Asp410Val) rs1928125452
NM_000133.4(F9):c.1289G>A (p.Ser430Asn) rs1569333062
NM_000133.4(F9):c.161A>T (p.Glu54Val) rs1569481966
NM_000133.4(F9):c.205T>A (p.Cys69Ser) rs2148356172
NM_000133.4(F9):c.235G>A (p.Glu79Lys) rs1927499978
NM_000133.4(F9):c.786T>G (p.Ile262Met) rs2148367254
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.198C>A (p.Tyr66Ter) rs2044669179
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2293G>A (p.Asp765Asn) rs2043615915
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.387C>G (p.Cys129Trp) rs1566935514
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
NM_000138.5(FBN1):c.5009A>G (p.Tyr1670Cys) rs1566903532
NM_000138.5(FBN1):c.5296+2T>G
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys) rs1555395266
NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe) rs1131691479
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.8226+5G>A rs193922243
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000157.4(GBA1):c.17_18del (p.Pro6fs)
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr) rs2128822108
NM_000162.5(GCK):c.766G>C (p.Glu256Gln) rs769268803
NM_000162.5(GCK):c.852dup (p.Gly285fs)
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000193.4(SHH):c.1085C>T (p.Ser362Leu) rs866005910
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) rs1599874183
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu) rs1563156725
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000251.3(MSH2):c.1077-2A>G rs267607943
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.732+1G>C rs730880850
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000298.6(PKLR):c.-72A>G rs1324044951
NM_000298.6(PKLR):c.1180G>A (p.Ala394Thr) rs1647353051
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys) rs1167814744
NM_000342.4(SLC4A1):c.799del (p.Val267fs) rs2144616948
NM_000346.4(SOX9):c.429G>T (p.Trp143Cys) rs1567910317
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys) rs2046926886
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.996+1G>A rs2126030587
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000517.6(HBA2):c.242T>G (p.Leu81Arg) rs281864863
NM_000517.6(HBA2):c.283G>T (p.Asp95Tyr) rs281864878
NM_000517.6(HBA2):c.300+1G>A
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) rs33948578
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.51C>T (p.Gly17=) rs370075492
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000527.5(LDLR):c.1201C>T (p.Leu401Phe)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.424+2T>C rs775192689
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe) rs45486196
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs) rs2090170656
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
NM_000548.5(TSC2):c.5266del (p.Glu1756fs) rs878854118
NM_000552.5(VWF):c.115G>A (p.Gly39Arg)
NM_000552.5(VWF):c.1179dup (p.Ser394fs)
NM_000552.5(VWF):c.1231C>T (p.Gln411Ter)
NM_000552.5(VWF):c.2646dup (p.Tyr883fs)
NM_000552.5(VWF):c.3735dup (p.Pro1246fs) rs2136413939
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln) rs61750097
NM_000552.5(VWF):c.7730-2del
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly) rs764523123
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) rs1567144266
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) rs1567206560
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) rs1567187434
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs) rs748900391
NM_001040142.2(SCN2A):c.3399+1G>A rs1700091133
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
NM_001042492.3(NF1):c.1506dup (p.Asp503fs)
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001130021.3(ATP6V0A1):c.2381A>T (p.Glu794Val)
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs) rs1734410152
NM_001204.7(BMPR2):c.12del (p.Leu5fs) rs1690174710
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter) rs766741057
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) rs180177433
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) rs180177441
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter) rs2082478614
NM_001267550.2(TTN):c.68149del (p.Arg22717fs) rs2047058557
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter) rs1704654934
NM_001267550.2(TTN):c.91784_91789del (p.Gly30595_Tyr30597delinsAsp)
NM_001267550.2(TTN):c.97040_97041del (p.Leu32347fs) rs2154142938
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360016.2(G6PD):c.412T>G (p.Phe138Val)
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser) rs1942013583
NM_001370259.2(MEN1):c.125G>T (p.Gly42Val) rs1565652689
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1351-3_1359del rs2136094253
NM_001370259.2(MEN1):c.1609del (p.Val537fs) rs2136083128
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370466.1(NOD2):c.920G>T (p.Arg307Leu)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met) rs1064795077
NM_001605.3(AARS1):c.14dup (p.Thr6fs)
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) rs112901682
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val)
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val) rs2136579397
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser) rs886042741
NM_001844.5(COL2A1):c.2095-1G>A
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg) rs2136542141
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val) rs1281743095
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg) rs1565672299
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) rs786205477
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu) rs1938718512
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp) rs1938716355
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002474.3(MYH11):c.3858+1G>A rs2151225126
NM_002769.5(PRSS1):c.416G>T (p.Cys139Phe) rs768853338
NM_002834.5(PTPN11):c.173_175del (p.Asn58del)
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.769T>A (p.Ser257Thr) rs727505017
NM_002890.3(RASA1):c.2691-1G>T
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter) rs1571898957
NM_003002.4(SDHD):c.340T>G (p.Tyr114Asp) rs876659276
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.44del (p.Asp15fs) rs2093886453
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004444.5(EPHB4):c.1848_1849delinsT (p.Lys616fs) rs2116432568
NM_004586.3(RPS6KA3):c.356G>C (p.Arg119Pro) rs1057517947
NM_004999.4(MYO6):c.2544_2545del (p.Arg849fs) rs2149358928
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val) rs1914085591
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser) rs2152547868
NM_015335.5(MED13L):c.4338+5G>A rs1877682848
NM_018082.6(POLR3B):c.2900dup (p.Ser967fs)
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021939.4(FKBP10):c.392-2A>G rs1555616334
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs) rs1815805060
NM_025132.4(WDR19):c.1778-1G>A rs1730515128
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075
NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter) rs751408583
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp) rs754616167
NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr) rs1568925523
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter) rs1564400585

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