ClinVar Miner

List of variants reported as uncertain significance for Pfeiffer syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000141.4(FGFR2):c.*1070T>C rs886046761
NM_000141.4(FGFR2):c.*1126T>C rs370106008
NM_000141.4(FGFR2):c.*1287A>C rs886046760
NM_000141.4(FGFR2):c.*1369C>T rs886046759
NM_000141.4(FGFR2):c.*1402T>C rs886046758
NM_000141.4(FGFR2):c.*1489C>T rs886046757
NM_000141.4(FGFR2):c.*497T>C rs3135827
NM_000141.4(FGFR2):c.*674G>T rs566155088
NM_000141.4(FGFR2):c.*736dupA rs886046762
NM_000141.4(FGFR2):c.-128G>A rs547739869
NM_000141.4(FGFR2):c.-129C>T rs886046765
NM_000141.4(FGFR2):c.-165G>A rs886046766
NM_000141.4(FGFR2):c.-371C>T rs527570655
NM_000141.4(FGFR2):c.-535G>C rs886046767
NM_000141.4(FGFR2):c.-622G>A rs886046768
NM_000141.4(FGFR2):c.110-16_110-15delTC rs773932794
NM_000141.4(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.4(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.4(FGFR2):c.1562-11A>G rs41293744
NM_000141.4(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_000141.4(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.4(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.4(FGFR2):c.989G>A (p.Arg330Gln)
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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