ClinVar Miner

List of variants in gene AR reported as likely pathogenic for androgen insensitivity syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1181_1200dup (p.Ala401fs)
NM_000044.6(AR):c.1341T>A (p.Tyr447Ter)
NM_000044.6(AR):c.1396_1397insAG (p.Gly466fs)
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.1616+1_1616+3delinsT
NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp) rs1925886368
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.1737C>A (p.Ser579Arg)
NM_000044.6(AR):c.1742A>C (p.Lys581Thr) rs2147436623
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
NM_000044.6(AR):c.1749C>G (p.Phe583Leu)
NM_000044.6(AR):c.1762G>C (p.Ala588Pro) rs1034866440
NM_000044.6(AR):c.1768+1G>A rs2147436755
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.1873A>G (p.Met625Val)
NM_000044.6(AR):c.1933G>T (p.Glu645Ter)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2056G>C (p.Val686Leu) rs2147524833
NM_000044.6(AR):c.2072A>G (p.Asp691Gly)
NM_000044.6(AR):c.2076C>A (p.Asn692Lys) rs2147524930
NM_000044.6(AR):c.2079C>G (p.Asn693Lys)
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2087A>T (p.Asp696Val)
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2126G>T (p.Gly709Val) rs2147525149
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
NM_000044.6(AR):c.2170C>T (p.Pro724Ser) rs2147525357
NM_000044.6(AR):c.2174-2A>G
NM_000044.6(AR):c.2221T>C (p.Ser741Pro)
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
NM_000044.6(AR):c.2237T>C (p.Met746Thr) rs2147530857
NM_000044.6(AR):c.2239G>A (p.Val747Met) rs1602276233
NM_000044.6(AR):c.2255G>C (p.Trp752Ser) rs2147530924
NM_000044.6(AR):c.2317G>A (p.Glu773Lys)
NM_000044.6(AR):c.2318A>G (p.Glu773Gly) rs2076119092
NM_000044.6(AR):c.2339G>C (p.Arg780Pro)
NM_000044.6(AR):c.2342T>A (p.Met781Lys) rs2076137339
NM_000044.6(AR):c.2449+1G>A
NM_000044.6(AR):c.2449+1_2449+3dup
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
NM_000044.6(AR):c.2566C>A (p.Arg856Ser) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2570_2572del (p.Phe857del) rs2076142436
NM_000044.6(AR):c.2636T>C (p.Phe879Ser)
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.2710G>A (p.Val904Met)
NM_000044.6(AR):c.2710G>T (p.Val904Leu) rs2147540656
NM_000044.6(AR):c.2747A>C (p.Tyr916Ser) rs2076147482
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)
NM_000044.6(AR):c.35del (p.Pro12fs)

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