ClinVar Miner

List of variants in gene CYP11A1 studied for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
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Total variants: 25
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CYP11A1, 1-BP DEL, 835A
CYP11A1, 1-BP INS, IVS3, T
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) rs121912814
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) rs121912813
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121

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