ClinVar Miner

List of variants reported as pathogenic for benign endocrine neoplasm by OMIM

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000244.3(MEN1):c.1669A>T (p.Thr557Ser) rs121913035
NM_000545.6(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) rs121908164
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174

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