ClinVar Miner

List of variants in gene AR, LOC109504725 studied for 46,XY disorder of sex development

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000044.6(AR):c.188A>T (p.Gln63Leu) rs62636527 0.00006
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[22] (p.Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) rs1206863775
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) rs1206863775
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) rs1602143232
NM_000044.6(AR):c.175C>T (p.Gln59Ter) rs1929657778
NM_000044.6(AR):c.178C>T (p.Gln60Ter) rs137852575
NM_000044.6(AR):c.179dup (p.Gln61fs) rs759327087
NM_000044.6(AR):c.180_181del (p.Gln61fs) rs869320731
NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) rs1929660142
NM_000044.6(AR):c.187C>T (p.Gln63Ter)
NM_000044.6(AR):c.190C>T (p.Gln64Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.201G>A (p.Gln67=)
NM_000044.6(AR):c.214C>T (p.Gln72Ter) rs1555969512
NM_000044.6(AR):c.217C>T (p.Gln73Ter) rs1199988820
NM_000044.6(AR):c.220C>T (p.Gln74Ter) rs886041129
NM_000044.6(AR):c.222G>A (p.Gln74=)
NM_000044.6(AR):c.234G>A (p.Gln78=)
NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) rs1569263642
NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)
NM_000044.6(AR):c.240A>G (p.Gln80=)
NM_000044.6(AR):c.246T>C (p.Thr82=)
NM_000044.6(AR):c.256CAG[7] (p.Gln91dup) rs753526329
NM_000044.6(AR):c.261G>A (p.Gln87=)
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.270G>T (p.Gln90His)
NM_000044.6(AR):c.271C>T (p.Gln91Ter) rs112374098
NM_000044.6(AR):c.273G>A (p.Gln91=)

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