ClinVar Miner

List of variants reported as uncertain significance for hand-foot-genital syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
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.263G>A (p.Arg88His) rs1441311870
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.884A>C (p.Gln295Pro)
NM_152739.4(HOXA9):c.304G>C (p.Ala102Pro)

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