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: 44
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HGVS dbSNP
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) rs1553507345
NM_000138.4(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.4(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
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_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
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.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000335.4(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys) rs1555619429
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001077488.4(GNAS):c.1009dup (p.Arg337fs) rs1569031388
NM_001128177.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs) rs1569315842
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001232.3(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_006920.6(SCN1A):c.3818G>A (p.Trp1273Ter) rs1559144583
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.651G>T (p.Ala217=)

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