ClinVar Miner

List of variants reported as likely pathogenic for Pfeiffer syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe) rs121913478
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) rs121918507
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser) rs2539419195
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_023110.3(FGFR1):c.1081+1G>A rs2150751795
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro) rs2150751821
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del) rs2536850855
NM_023110.3(FGFR1):c.1854+2T>C
NM_023110.3(FGFR1):c.1855-2A>G rs1554548434
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe) rs2536805437
NM_023110.3(FGFR1):c.2049-1G>A rs2150537863
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2186+2T>G
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu) rs2536775609
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-1G>A rs2150920571
NM_023110.3(FGFR1):c.449-6G>A rs2150920643
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly) rs2150914598
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp) rs2150859908
NM_023110.3(FGFR1):c.745+1G>T rs2150857240
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369

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