ClinVar Miner

List of variants in gene HOXA13, LOC107126288 studied for congenital limb malformation

Included ClinVar conditions (336):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile) rs200676634 0.00010
NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser) rs752314022 0.00006
NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn) rs1784060954 0.00001
NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser) rs747262113
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.263G>A (p.Arg88His) rs1441311870
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs) rs387906542
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
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
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr) rs34398255
NM_000522.5(HOXA13):c.741dup (p.Gly248fs)
NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)

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