ClinVar Miner

List of variants studied 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: 45
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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.1501+6C>T rs374306837
NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000551.3(VHL):c.-73C>T rs1034934219
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.31G>C (p.Ala11Pro) rs1236604706
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) rs200414835
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.112C>T (p.Arg38Cys) rs202119350
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096
NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val) rs374848403
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.427G>A (p.Val143Ile) rs772153618
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891

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