ClinVar Miner

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

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641

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