ClinVar Miner

List of variants reported as likely pathogenic by The Genetics Institute, Rambam Health Care Campus

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys) rs1595086845
NM_001122630.2(CDKN1C):c.334_352del (p.Ala112fs) rs1848960369
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val) rs1602499659
NM_003280.3(TNNC1):c.135G>A (p.Met45Ile)
NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678

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