ClinVar Miner

List of variants in gene HOXA13, LOC107126288 studied for Hand-foot-genital syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000522.5(HOXA13):c.884A>C (p.Gln295Pro) rs557028335 0.00001
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) rs2534827764
NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla) rs2534827749
NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter) rs1158254994
NM_000522.5(HOXA13):c.741dup (p.Gly248fs) rs2534826601
NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser) rs2534826365

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