ClinVar Miner

List of variants in gene FGFR2 reported as likely benign for Pfeiffer syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000141.4(FGFR2):c.*111G>A rs574474794
NM_000141.4(FGFR2):c.*1301C>T rs71640261
NM_000141.4(FGFR2):c.*1319A>G rs3135830
NM_000141.4(FGFR2):c.*1498_*1502delATAAA rs566259479
NM_000141.4(FGFR2):c.*184C>T rs4647917
NM_000141.4(FGFR2):c.*197delA rs748777325
NM_000141.4(FGFR2):c.*324A>G rs150519853
NM_000141.4(FGFR2):c.*403A>G rs3135826
NM_000141.4(FGFR2):c.*641_*644delTAAT rs548465887
NM_000141.4(FGFR2):c.*921G>A rs185617859
NM_000141.4(FGFR2):c.-135C>T rs554557891
NM_000141.4(FGFR2):c.-298_-297dupCC rs41301549
NM_000141.4(FGFR2):c.-358C>T rs41301545
NM_000141.4(FGFR2):c.-458C>A rs41301043
NM_000141.4(FGFR2):c.-46G>A rs201606812
NM_000141.4(FGFR2):c.-74G>A rs4647922
NM_000141.4(FGFR2):c.1085-13A>T rs41295573
NM_000141.4(FGFR2):c.109+10T>G rs3135722
NM_000141.4(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.4(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000141.4(FGFR2):c.1673-12C>T rs41293763
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000141.4(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882
NM_000141.4(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.4(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.4(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_000141.4(FGFR2):c.625-10A>G rs201512833
NM_000141.4(FGFR2):c.879C>T (p.His293=) rs55745510
NM_000141.4(FGFR2):c.939+11T>C rs145303463

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