ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs) rs386134245
NM_000244.3(MEN1):c.1078delC (p.Arg360Glyfs) rs386134246
NM_000244.3(MEN1):c.1189dupG (p.Glu397Glyfs) rs386134247
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.252dupT (p.Ile85Tyrfs) rs386134253
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161Asnfs) rs386134255
NM_000244.3(MEN1):c.664_669+2delGAGCGGGT rs386134258
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.970dupT (p.Tyr324Leufs) rs386134261
NM_000349.2(STAR):c.135delT (p.Ser46Alafs) rs193922393
NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.3:c.1490delC
NM_000475.4(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000551.3(VHL):c.189dup (p.Arg64Alafs) rs1553619402
NM_000551.3(VHL):c.192delC (p.Ser65Argfs) rs730882031
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter)
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.642A>G (p.Ter214Trp)
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_007194.3(CHEK2):c.1259+1G>A rs121908707
NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) rs786202601
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
p.X214Trp

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