ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_006907.4(PYCR1):c.59dup (p.Ala21fs) rs762218403 0.00001
NM_000044.6(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs) rs1555526309
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs) rs1057519511
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001042492.3(NF1):c.5087del (p.Leu1696fs) rs1555533368
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) rs587776709
NM_001080517.3(SETD5):c.1783-1G>C rs1553625691
NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs) rs1553625836
NM_001080517.3(SETD5):c.2508dup (p.Arg837fs) rs1553635477
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001101.5(ACTB):c.350A>T (p.Glu117Val) rs1554329516
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) rs1555809984
NM_001291415.2(KDM6A):c.1552_1555dup (p.Trp519fs) rs1556311265
NM_001303052.2(MYT1L):c.760dup (p.Asp254fs) rs1553324416
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter) rs1555984433
NM_001349338.3(FOXP1):c.975-2A>C rs1553685707
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.5(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_001367721.1(CASK):c.2040-1G>A rs1555977269
NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001371928.1(AHDC1):c.550del (p.Ala184fs) rs1553159979
NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs) rs1569115756
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) rs1554294698
NM_001374828.1(ARID1B):c.3714+2T>G rs1404726383
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs) rs1553403653
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs) rs1425609364
NM_001379403.1(WDR26):c.373_374insA (p.Gly125fs) rs1553364018
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs) rs1553630507
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003482.4(KMT2D):c.14069_14075+1del rs1555186619
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs) rs1567977657
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.449del (p.Phe150fs)
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) rs1022192010
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) rs886041021
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys) rs1554770262
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) rs1554843829
NM_012330.4(KAT6B):c.4461_4464del (p.Glu1488fs) rs1554845810
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly) rs1553318238
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) rs1555912709
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs) rs1554401434
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_016628.5(WAC):c.1437+1G>A rs1554791124
NM_017635.5(KMT5B):c.255del (p.Ser86fs) rs1555034768
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs) rs1558148010
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs) rs1553245038
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_024665.7(TBL1XR1):c.874dup (p.Ile292fs) rs1553813646
NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs) rs1554880275
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) rs1598091391
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) rs1555566042
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_170675.5(MEIS2):c.825dup (p.Arg276fs) rs1555456994
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453

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