ClinVar Miner

List of variants reported as pathogenic for adrenal gland disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.3(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.3(VHL):c.464-1G>A rs5030817
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.3(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_002734.4(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003001.3(SDHC):c.397C>T (p.Arg133Ter) rs764575966
NM_003001.3(SDHC):c.43C>T (p.Arg15Ter) rs201286421
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs) rs770214071
NM_206898.1(MRAP):c.3G>A (p.Met1Ile) rs80358231

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