ClinVar Miner

List of variants in gene AR reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1029T>C (p.Ser343=) rs113983339 0.00467
NM_000044.6(AR):c.324G>C (p.Leu108=) rs147677446 0.00445
NM_000044.6(AR):c.1139C>G (p.Pro380Arg) rs200510049 0.00194
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000044.6(AR):c.421G>A (p.Ala141Thr) rs865948546 0.00002
NM_000044.6(AR):c.1380C>T (p.Gly460=) rs1264262764 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.1379_1380insGCG (p.Gly460_Gly461insArg) rs1555969966
NM_000044.6(AR):c.170delinsAGCA (p.Leu57delinsGlnGln) rs2147314625
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2197G>A (p.Asp733Asn) rs2147530668
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2451T>C (p.Ile817=) rs1555997755
NM_000044.6(AR):c.2668G>T (p.Val890Leu) rs886041133
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer) rs2147317782

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