ClinVar Miner

List of variants in gene FGFR1 reported as uncertain significance for Pfeiffer syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_023110.2(FGFR1):c.*1144G>A rs886062911
NM_023110.2(FGFR1):c.*118C>T rs886062916
NM_023110.2(FGFR1):c.*1218T>C rs886062910
NM_023110.2(FGFR1):c.*1286C>T rs886062909
NM_023110.2(FGFR1):c.*14G>A rs371776128
NM_023110.2(FGFR1):c.*1560C>T rs761096092
NM_023110.2(FGFR1):c.*1616T>G rs886062908
NM_023110.2(FGFR1):c.*1965G>A rs886062907
NM_023110.2(FGFR1):c.*2407C>T rs758524862
NM_023110.2(FGFR1):c.*313T>C rs886062915
NM_023110.2(FGFR1):c.*313T>G rs886062915
NM_023110.2(FGFR1):c.*494A>G rs562843836
NM_023110.2(FGFR1):c.*70C>T rs886062918
NM_023110.2(FGFR1):c.*71A>G rs886062917
NM_023110.2(FGFR1):c.*762A>G rs886062914
NM_023110.2(FGFR1):c.*845T>C rs886062913
NM_023110.2(FGFR1):c.*906A>T rs139347382
NM_023110.2(FGFR1):c.*913G>A rs886062912
NM_023110.2(FGFR1):c.*958G>A rs537880800
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.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+13T>C rs763815221
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln)
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.2293-11G>A rs886062919
NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) rs758677681
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser)
NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) rs201054877
NM_023110.2(FGFR1):c.449-7C>T rs754454127
NM_023110.2(FGFR1):c.549C>T (p.Thr183=) rs886062920
NM_023110.2(FGFR1):c.663G>T (p.Val221=) rs766451294
NM_023110.2(FGFR1):c.75G>A (p.Pro25=) rs17175757
NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr) rs747978107
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_023110.2(FGFR1):c.91+6G>T rs886062921

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