ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000383.4(AIRE):c.1279-18C>T rs72650678
NM_000383.4(AIRE):c.538+42del rs3214074
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.738+12_738+13inv rs71552100
NM_000551.3(VHL):c.464-117delT rs193922612
NM_020630.4(RET):c.1264-55dupG rs193922698
NM_020630.5(RET):c.-234_-230dup rs386134265

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