ClinVar Miner

List of variants in gene HSD11B2 studied for adrenal gland disease

Included ClinVar conditions (124):
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Total variants: 16
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HGVS dbSNP
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.220_222delinsGG (p.Arg74fs) rs1567529174
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) rs1356598056
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480
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
NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) rs1567530910

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