ClinVar Miner

List of variants reported as pathogenic for adrenal gland disease by Center for Human Genetics, Inc

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000244.3(MEN1):c.1118C>A (p.Ala373Asp) rs1555164707
NM_000244.3(MEN1):c.1561dup (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.563G>A (p.Trp188Ter) rs794728650
NM_000244.3(MEN1):c.799-9G>A rs794728625
NM_000551.3(VHL):c.193T>C (p.Ser65Pro) rs869025616
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.3(VHL):c.585_586del (p.Lys196fs) rs1553620362
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003001.3(SDHC):c.1A>G (p.Met1Val) rs755235380
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.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.336dup (p.Asp113Ter) rs1555187583
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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