ClinVar Miner

List of variants reported as uncertain significance for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency by Counsyl

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691 0.00001
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg) rs757389720 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.4(CYP11B1):c.955-15_955-1del rs1554652823

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