ClinVar Miner

List of variants reported as pathogenic for apparent mineralocorticoid excess by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000196.3(HSD11B2):c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) rs397509434
NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys) rs121917781
NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His) rs387907117
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) rs28934592
NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys) rs28934591
NM_000196.4(HSD11B2):c.664+14C>T rs376023420
NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn) rs121917833
NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer) rs794726684
NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys) rs28934594
NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) rs794726670

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