ClinVar Miner

List of variants reported as pathogenic for EEC syndrome and related syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr) rs121913105
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg) rs1554927408
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610

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