ClinVar Miner

List of variants reported as likely pathogenic for EEC syndrome and related syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.4(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
NM_000141.4(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337
NM_004465.1(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.1(FGF10):c.232delC (p.Arg78Alafs) rs1554040364
NM_004465.1(FGF10):c.256delA (p.Thr86Profs) rs1554040361
NM_004465.1(FGF10):c.356delG (p.Gly119Glufs) rs1554035763
NM_004465.1(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.1(FGF10):c.550G>A (p.Gly184Arg) rs1554035469

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