ClinVar Miner

List of variants studied for EEC syndrome and related syndrome by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000141.4(FGFR2):c.1882G>A (p.Ala628Thr) rs121918509
NM_000141.4(FGFR2):c.1942G>A (p.Ala648Thr) rs121918508
NM_000141.4(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer) rs879253720
NM_000142.4(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112
NM_000142.4(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) rs121908837
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) rs121908844
NM_003722.5(TP63):c.325-18456A>C rs113993963
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_004465.1(FGF10):c.317G>T (p.Cys106Phe) rs104893885
NM_004465.1(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.1(FGF10):c.467T>G (p.Ile156Arg) rs104893886
TP63, 1-BP INS, 1572A
TP63, 2-BP DEL, 1576TT
TP63, 2-BP DEL, 1743AA
TP63, ARG227PRO
TP63, PRO127LEU
TP63, VAL114MET

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