ClinVar Miner

List of variants reported as likely pathogenic by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
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_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_016630.7(SPG21):c.452+2T>C rs755390093 0.00004
NM_020944.3(GBA2):c.1A>T (p.Met1Leu) rs770566458 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) rs141431913 0.00003
NM_199242.3(UNC13D):c.2258G>T (p.Gly753Val) rs1418183549 0.00003
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000081.4(LYST):c.5784+2C>T rs763156837 0.00001
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter) rs768066753 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.873C>A (p.Tyr291Ter) rs1566150887 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) rs1291061962 0.00001
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter) rs201184519 0.00001
NM_001375808.2(LPIN2):c.1204_1205dup (p.Asp402fs) rs779553737 0.00001
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter) rs2098673217 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter) rs1342590804 0.00001
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter) rs767325342 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter) rs988442865 0.00001
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs) rs950356390 0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_144687.4(NLRP12):c.2757-1G>T rs143515989 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs) rs747180228 0.00001
NM_000081.4(LYST):c.2741_2742del (p.Glu914fs) rs2102864339
NM_000088.4(COL1A1):c.1057-2A>T rs66511271
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs) rs2144570980
NM_000088.4(COL1A1):c.1614+1G>T rs72648357
NM_000088.4(COL1A1):c.1745del (p.Phe582fs) rs2144569160
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg) rs72651626
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys) rs1907108266
NM_000088.4(COL1A1):c.2097del (p.Asn700fs) rs72651643
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp) rs72653130
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs) rs1114167392
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs) rs2144547648
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp) rs1275118660
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000088.4(COL1A1):c.543+2T>C rs2144588834
NM_000088.4(COL1A1):c.904-1G>T rs1907593112
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs) rs2144580715
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000088.4(COL1A1):c.977dup (p.Ala327fs) rs2144579919
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs) rs2144579745
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala) rs72658122
NM_000089.4(COL1A2):c.1503+1G>A rs1554396615
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu) rs2115917195
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys) rs2115921275
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp) rs72658178
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) rs1305819869
NM_000089.4(COL1A2):c.486+2T>G rs2115877489
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val) rs1188265845
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser) rs2153503019
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg) rs587779550
NM_000090.4(COL3A1):c.582+1G>C rs587779508
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val) rs2153502168
NM_000091.5(COL4A3):c.2656+1G>T
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)
NM_000093.4(COL5A1):c.4646dupG rs2132879262
NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter) rs2132830435
NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs) rs2132848217
NM_000093.5(COL5A1):c.4014+1G>A rs2132854041
NM_000093.5(COL5A1):c.5031del (p.Ser1678fs) rs2132887747
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs) rs2113698812
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.4725_4726insTACACATCCTTGTGAG (p.Met1576delinsTyrThrSerLeuTer) rs2141272274
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe) rs1555395645
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
NM_000186.4(CFH):c.47del (p.Cys16fs)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.656dup (p.Ala220fs) rs774061491
NM_000302.4(PLOD1):c.979dup (p.Gln327fs) rs2100754171
NM_000346.4(SOX9):c.1132C>T (p.Gln378Ter) rs2143254539
NM_000346.4(SOX9):c.1379_1380dup (p.Gly461fs) rs2143257416
NM_000346.4(SOX9):c.68del (p.Ser23fs) rs2143236734
NM_000451.4(SHOX):c.348del (p.Lys116fs) rs2124165604
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) rs104894948
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.108_111dup (p.His38Ter) rs2065655815
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs) rs2066520145
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs) rs1597682159
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1254del (p.Thr419fs) rs761430357
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs) rs2066991740
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-4_2326-1del rs2067037065
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg) rs199474730
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup) rs2065717991
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs) rs2067082667
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs) rs2067083472
NM_001042492.3(NF1):c.2940del (p.Glu981fs) rs2067084312
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs) rs2067090473
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs) rs2067090561
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer) rs2067092112
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3196del (p.Arg1066fs) rs2067102964
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs) rs2067135200
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.3818del (p.Thr1273fs) rs2067188459
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter) rs761512189
NM_001042492.3(NF1):c.4018del (p.Leu1340fs) rs2067448975
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs) rs2067451446
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs) rs2067620305
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs) rs2067690116
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer) rs2069326575
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs) rs2069337884
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5374del (p.Cys1792fs) rs2069378463
NM_001042492.3(NF1):c.5387del (p.Glu1796fs) rs2069379168
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs) rs2069386536
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs) rs2069452094
NM_001042492.3(NF1):c.573del (p.Lys191fs) rs2065904589
NM_001042492.3(NF1):c.5812+2_5812+3insTA rs2069454921
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs) rs2069602426
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.60+1G>C rs1555594500
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6147+1G>C rs1060500296
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg) rs1597843129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs) rs2069742524
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs) rs2069792273
NM_001042492.3(NF1):c.7062+2del rs2069795581
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu) rs2066155612
NM_001042492.3(NF1):c.7456_7457+7del rs2070109067
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.7615+1del rs1355691590
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8142del (p.Phe2714fs) rs2070340004
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg) rs104895238
NM_001065.4(TNFRSF1A):c.215G>T (p.Cys72Phe) rs104895252
NM_001083116.3(PRF1):c.1595del (p.Gly532fs) rs2132474852
NM_001083116.3(PRF1):c.523del (p.Glu175fs) rs2132477884
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001166114.2(PNPLA6):c.1345del (p.Leu449fs) rs781364197
NM_001167.4(XIAP):c.862G>T (p.Gly288Ter) rs2148090291
NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs) rs2109005842
NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val) rs1553347334
NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter) rs774546369
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys) rs2103111391
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) rs180177431
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro) rs2052246987
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs) rs755541448
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.8247del (p.Asp2750fs) rs2151900685
NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val) rs2151892576
NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs) rs2151892569
NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter) rs2151892548
NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs) rs773500008
NM_001367624.2(ZNF469):c.8806G>T (p.Glu2936Ter) rs762301873
NM_001370466.1(NOD2):c.1345A>C (p.Thr449Pro) rs925816831
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter) rs1060503494
NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs) rs2104223760
NM_001371279.1(REEP1):c.52del (p.Tyr18fs) rs2104395088
NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter) rs2104051740
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.541+1G>A rs2106947027
NM_001844.5(COL2A1):c.1267-2A>G rs2136576254
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser) rs2136571594
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) rs2136567637
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) rs1231988113
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) rs2136546742
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) rs1939004215
NM_001844.5(COL2A1):c.2680-1G>A rs2136532474
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) rs2136526413
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) rs2136525233
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) rs2136525107
NM_001844.5(COL2A1):c.4317+1G>A rs2136504667
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) rs527236145
NM_001844.5(COL2A1):c.604_609+2del rs2136621947
NM_001851.6(COL9A1):c.9dup (p.Cys4fs) rs1404756199
NM_001853.4(COL9A3):c.528dup (p.Ile177fs) rs2147205530
NM_001853.4(COL9A3):c.638del (p.Pro213fs) rs2147208638
NM_001972.4(ELANE):c.159C>G (p.His53Gln) rs2145144118
NM_001972.4(ELANE):c.91del (p.Val31fs) rs2145143911
NM_001999.4(FBN2):c.1723+1G>T rs2126960067
NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter)
NM_002335.4(LRP5):c.1A>G (p.Met1Val) rs2153110162
NM_002335.4(LRP5):c.512G>T (p.Gly171Val) rs121908668
NM_002335.4(LRP5):c.884-2A>G rs2153140527
NM_002351.5(SH2D1A):c.201+3A>G rs2147531380
NM_002351.5(SH2D1A):c.261del (p.Gln88fs) rs2147534056
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002524.5(NRAS):c.179G>T (p.Gly60Val) rs267606920
NM_002615.7(SERPINF1):c.787-10C>G rs1908037067
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val) rs1428775799
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter) rs2135901920
NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter) rs775201668
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_003072.5(SMARCA4):c.1420-1G>T
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr) rs769602042
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) rs752989523
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter) rs146115797
NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly) rs104893810
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) rs2057009434
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs) rs1447415684
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004456.5(EZH2):c.1891del (p.Ile631fs)
NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs) rs747514385
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs) rs1298132281
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_005188.4(CBL):c.1516C>T (p.Arg506Ter) rs886041500
NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr) rs2135311043
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005902.4(SMAD3):c.594del (p.His198fs) rs2140296876
NM_006459.4(ERLIN1):c.753del (p.Phe252fs) rs2134100639
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006612.6(KIF1C):c.183G>A (p.Ser61=) rs886041035
NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_006767.4(LZTR1):c.1925del (p.Asp642fs) rs2147968505
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter) rs1489766065
NM_006767.4(LZTR1):c.2405del (p.Lys802fs) rs1601723893
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser) rs61326562
NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu) rs61548169
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter) rs2137590717
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9081dup (p.Asp3028Ter) rs2137586930
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014855.3(AP5Z1):c.295del (p.Leu99fs) rs2115103191
NM_014855.3(AP5Z1):c.868del (p.Arg290fs) rs756556933
NM_014946.4(SPAST):c.1082del (p.Pro361fs) rs2148734593
NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr) rs1553315355
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe) rs1060499670
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg) rs1573139616
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu) rs1553317030
NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter) rs2148753960
NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly) rs2148753986
NM_014946.4(SPAST):c.1379G>A (p.Arg460His) rs1553318241
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys) rs1679556566
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr) rs2148762766
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.358del (p.His120fs) rs2148685798
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter) rs1553394620
NM_014946.4(SPAST):c.871-1G>A rs1057524526
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs) rs2148734025
NM_014946.4(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter) rs764638887
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs) rs773333879
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) rs1595625206
NM_016630.7(SPG21):c.613C>T (p.Gln205Ter) rs2140415380
NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr) rs121912635
NM_022356.4(P3H1):c.1667del (p.Asp556fs) rs2124093521
NM_022489.4(INF2):c.451T>C (p.Cys151Arg)
NM_024306.5(FA2H):c.227G>A (p.Trp76Ter) rs1225330805
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter) rs2141105806
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter) rs2141027825
NM_025137.4(SPG11):c.278del (p.Arg93fs) rs2141130246
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs) rs1304713296
NM_025137.4(SPG11):c.6500del (p.Gly2167fs) rs2140921013
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs) rs1600700389
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) rs2127377117
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1248T>A (p.Cys416Ter) rs2141016711
NM_152594.3(SPRED1):c.163del (p.Cys55fs) rs2140978513
NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter) rs1300035418
NM_152594.3(SPRED1):c.926_927del (p.Val309fs) rs2141016305
NM_172351.3(CD46):c.83del (p.Leu28fs)
NM_173841.3(IL1RN):c.10+2T>C rs2104433206
NM_183235.3(RAB27A):c.422_424del (p.Arg141_Val142delinsIle) rs1478402636
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.1813_1830del (p.Leu605_Arg610del) rs2143878241
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=) rs1354115593
NM_199242.3(UNC13D):c.2261A>C (p.His754Pro) rs1446115570
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.3097del (p.Glu1033fs) rs2143860891

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