ClinVar Miner

List of variants studied for adrenal gland disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val) rs772602372 0.00001
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000781.3(CYP11A1):c.425+4A>T
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)

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