ClinVar Miner

List of variants studied for adrenocortical insufficiency by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769 0.00567
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly) rs104894143
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln) rs763712349
NM_000198.4(HSD3B2):c.308-1G>A
NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg) rs2526391697
NM_000349.3(STAR):c.349G>A (p.Gly117Ser) rs2487063534
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter) rs2519052156
NM_000475.5(NR0B1):c.617del (p.His206fs) rs2519051412
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter) rs370404312
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000529.2(MC2R):c.548dup (p.Leu184fs)
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs) rs1567895448
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys) rs2535414898
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.649A>G (p.Ile217Val) rs1174490469
NM_182977.3(NNT):c.922T>C (p.Cys308Arg)

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