ClinVar Miner

List of variants reported as likely pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) rs1553507345
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) rs767765046
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del) rs1554694678
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) rs773720185
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys) rs1555619429
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter) rs1559144583
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs) rs1569315842
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) rs104894402
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591

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