ClinVar Miner

List of variants reported as benign for Pfeiffer syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000141.4(FGFR2):c.*259C>T rs1047057
NM_000141.4(FGFR2):c.*469G>A rs41294351
NM_000141.4(FGFR2):c.-157A>G rs41258305
NM_000141.4(FGFR2):c.-236G>A rs1047111
NM_000141.4(FGFR2):c.-236G>C rs1047111
NM_000141.4(FGFR2):c.-318G>C rs41301547
NM_000141.4(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.4(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.4(FGFR2):c.2301+15C>T rs2278202
NM_000141.4(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_023110.2(FGFR1):c.*1632A>G rs13317
NM_023110.2(FGFR1):c.-385G>A rs2467531
NM_023110.2(FGFR1):c.-636C>T rs3213849
NM_023110.2(FGFR1):c.-699C>T rs328307
NM_023110.2(FGFR1):c.-751C>T rs2445003
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) rs55642501
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898

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