ClinVar Miner

List of variants in gene SRY studied for 46,XY sex reversal 1

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003140.3(SRY):c.465C>T (p.Ser155=) rs11575897 0.00037
NM_003140.3(SRY):c.53G>A (p.Ser18Asn) rs104894971 0.00004
NM_003140.3(SRY):c.251G>C (p.Arg84Thr) rs770778716 0.00001
NM_003140.3(SRY):c.270C>G (p.Ile90Met) rs104894959 0.00001
NC_000024.9:g.(?_2654792)_(2655895_?)dup
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) rs104894975
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
NM_003140.3(SRY):c.169C>T (p.Gln57Ter) rs1603308308
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
NM_003140.3(SRY):c.178G>C (p.Val60Leu) rs104894957
NM_003140.3(SRY):c.192G>A (p.Met64Ile) rs104894969
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) rs104894968
NM_003140.3(SRY):c.209G>A (p.Trp70Ter) rs104894965
NM_003140.3(SRY):c.212C>A (p.Ser71Tyr) rs2124486256
NM_003140.3(SRY):c.226C>T (p.Arg76Cys) rs2124486234
NM_003140.3(SRY):c.227G>T (p.Arg76Leu) rs1057519627
NM_003140.3(SRY):c.248C>A (p.Pro83His) rs2051123246
NM_003140.3(SRY):c.253A>G (p.Met85Val) rs2124486176
NM_003140.3(SRY):c.263C>A (p.Ser88Ter) rs1556370558
NM_003140.3(SRY):c.263C>G (p.Ser88Ter)
NM_003140.3(SRY):c.264dup (p.Glu89fs) rs1556370556
NM_003140.3(SRY):c.266A>C (p.Glu89Ala) rs1556370554
NM_003140.3(SRY):c.272G>A (p.Ser91Asn)
NM_003140.3(SRY):c.274A>T (p.Lys92Ter) rs104894970
NM_003140.3(SRY):c.277C>T (p.Gln93Ter) rs104894958
NM_003140.3(SRY):c.283G>C (p.Gly95Arg) rs104894974
NM_003140.3(SRY):c.284G>A (p.Gly95Glu) rs104894972
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter) rs1556370548
NM_003140.3(SRY):c.317A>T (p.Lys106Ile) rs104894964
NM_003140.3(SRY):c.320G>A (p.Trp107Ter) rs104894967
NM_003140.3(SRY):c.321G>T (p.Trp107Cys) rs2051122910
NM_003140.3(SRY):c.324del (p.Phe109fs) rs606231179
NM_003140.3(SRY):c.326T>C (p.Phe109Ser) rs104894956
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_003140.3(SRY):c.337G>A (p.Ala113Thr) rs104894966
NM_003140.3(SRY):c.339A>G (p.Ala113=) rs773247144
NM_003140.3(SRY):c.364_367del (p.Glu122fs) rs606231178
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys) rs104894973
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) rs104894973
NM_003140.3(SRY):c.397C>T (p.Arg133Trp) rs104894976
NM_003140.3(SRY):c.472C>T (p.Gln158Ter)
NM_003140.3(SRY):c.4C>T (p.Gln2Ter) rs104894977
NM_003140.3(SRY):c.570del (p.Ser191fs) rs1603308285
NM_003140.3(SRY):c.589C>A (p.Arg197Ser) rs756606002
NM_003140.3(SRY):c.89G>T (p.Arg30Ile) rs1556370576

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