ClinVar Miner

List of variants studied for adrenogenital syndrome by Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000497.4(CYP11B1):c.596-41C>T rs113759408 0.14096
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.239+20T>A rs6388 0.03859
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000497.4(CYP11B1):c.1122-20A>G rs61752794 0.01661
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.595+12G>A rs6387

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