ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val) rs149576470 0.00004
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.4642G>A (p.Glu1548Lys) rs1025023496 0.00001
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp) rs149509691 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe) rs397516255 0.00001
NM_000257.4(MYH7):c.1580C>A (p.Pro527His)
NM_000257.4(MYH7):c.2232G>T (p.Lys744Asn)
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del) rs397516159
NM_000257.4(MYH7):c.323G>T (p.Arg108Leu) rs730880832
NM_000257.4(MYH7):c.3325A>G (p.Lys1109Glu) rs1429196201
NM_000257.4(MYH7):c.4559G>T (p.Gly1520Val)
NM_000257.4(MYH7):c.4697A>G (p.Asn1566Ser) rs988401698
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg) rs727504403
NM_000257.4(MYH7):c.5616G>T (p.Gln1872His) rs1356446816
NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile) rs786204385
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887

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