ClinVar Miner

List of variants studied for complete androgen insensitivity syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.1749C>G (p.Phe583Leu)
NM_000044.6(AR):c.1835G>C (p.Cys612Ser)
NM_000044.6(AR):c.2076C>A (p.Asn692Lys) rs2147524930
NM_000044.6(AR):c.2338C>T (p.Arg780Trp) rs2076137289
NM_000044.6(AR):c.2494C>G (p.Arg832Gly) rs2147537840
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.754G>T (p.Glu252Ter)

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