ClinVar Miner

List of variants reported as pathogenic for Hand-foot-genital syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter) rs104894019
NM_000522.5(HOXA13):c.1114A>C (p.Asn372His) rs121912542
NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs) rs387906542
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla) rs35861510
NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)
NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter) rs1158254994

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