ClinVar Miner

List of variants reported as pathogenic by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val) rs587777189 0.00003
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly) rs672601372 0.00003
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704 0.00002
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_001031679.3(MSRB3):c.391-1G>A rs751906778 0.00001
NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter) rs587777192 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile) rs387907150 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
NM_000163.5(GHR):c.267-2A>G rs1757597156
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=) rs1060499941
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter) rs919662130
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.5803-1G>A rs1555044700
NM_001312673.2(PCYT1A):c.295G>A (p.Ala99Thr) rs587777191
NM_001312673.2(PCYT1A):c.385G>A (p.Glu129Lys) rs587777194
NM_001312673.2(PCYT1A):c.448C>G (p.Pro150Ala) rs587777190
NM_001312673.2(PCYT1A):c.571T>C (p.Phe191Leu) rs587777195
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser) rs540053239
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs) rs587777193
NM_001365902.3(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs) rs757946805
NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter) rs1264862631
NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs) rs1553689752
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) rs869312907
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_002296.4(LBR):c.226C>T (p.Arg76Ter) rs869312905
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs) rs869312908
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002887.4(RARS1):c.1846_1847del (p.Tyr616fs) rs1064792894
NM_002906.4(RDX):c.551+2T>C rs1591158999
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.4(SKI):c.62T>G (p.Leu21Arg) rs869312902
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.8366+1G>T rs1057518149
NM_003791.4(MBTPS1):c.2948G>A (p.Trp983Ter) rs2085516391
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_006767.4(LZTR1):c.320+1del rs1569153870
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) rs1569154722
NM_013335.4(GMPPA):c.853+1G>A rs1553624347
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter) rs387906896
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016222.3:c.[711G>T;712C>A]
NM_018668.5(VPS33B):c.350del (p.Pro117fs) rs1555459968
NM_022817.3(PER2):c.595del (p.Leu199fs) rs1559332542
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_207122.2(EXT2):c.314del (p.Lys105fs) rs1954084273
NM_212482.4(FN1):c.685+1G>C rs113683179
Single allele

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