ClinVar Miner

List of variants in gene HSD11B2 studied for adrenal gland disorder

Included ClinVar conditions (114):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480 0.08122
NM_000196.4(HSD11B2):c.468C>A (p.Thr156=) rs5479 0.07968
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) rs45483293 0.02897
NM_000196.4(HSD11B2):c.817G>A (p.Val273Met) rs140385822 0.00130
NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=) rs45578842 0.00110
NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=) rs149889029 0.00026
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His) rs13306425 0.00019
NM_000196.4(HSD11B2):c.935G>A (p.Arg312His) rs766239000 0.00003
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn) rs147758873 0.00003
NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys) rs121917781 0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) rs397509434 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) rs28934592 0.00001
NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn) rs121917833 0.00001
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu) rs28934593
NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His) rs387907117
NM_000196.4(HSD11B2):c.1020del (p.Gly341fs) rs2040979235
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) rs1567529174
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
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.512A>G (p.Asn171Ser)
NM_000196.4(HSD11B2):c.536T>C (p.Leu179Pro)
NM_000196.4(HSD11B2):c.586G>A (p.Ala196Thr)
NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys) rs28934591
NM_000196.4(HSD11B2):c.664+14C>T rs376023420
NM_000196.4(HSD11B2):c.664+16dup rs72650121
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) rs1309642469
NM_000196.4(HSD11B2):c.745G>A (p.Glu249Lys)
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.Val321_Val322insAlaProVal) rs1567530910
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) rs1453036708

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