ClinVar Miner

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

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369

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