ClinVar Miner

List of variants reported as uncertain significance for Pfeiffer syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_023110.2(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.2(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser)
NM_023110.2(FGFR1):c.91+6G>T rs886062921
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)

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