ClinVar Miner

List of variants reported as pathogenic for benign endocrine neoplasm by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236
NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334

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