ClinVar Miner

List of variants reported as pathogenic for hypertrophic cardiomyopathy by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (244):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096delC rs397515947
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014

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