ClinVar Miner

List of variants studied for Pfeiffer syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_015850.4(FGFR1):c.*2104del rs201364530
NM_022970.3(FGFR2):c.*1070T>C rs886046761
NM_022970.3(FGFR2):c.*111G>A rs574474794
NM_022970.3(FGFR2):c.*1126T>C rs370106008
NM_022970.3(FGFR2):c.*1287A>C rs886046760
NM_022970.3(FGFR2):c.*1301C>T rs71640261
NM_022970.3(FGFR2):c.*1319A>G rs3135830
NM_022970.3(FGFR2):c.*1369C>T rs886046759
NM_022970.3(FGFR2):c.*1402T>C rs886046758
NM_022970.3(FGFR2):c.*1489C>T rs886046757
NM_022970.3(FGFR2):c.*1498_*1502del rs566259479
NM_022970.3(FGFR2):c.*184C>T rs4647917
NM_022970.3(FGFR2):c.*197del rs748777325
NM_022970.3(FGFR2):c.*259C>T rs1047057
NM_022970.3(FGFR2):c.*324A>G rs150519853
NM_022970.3(FGFR2):c.*403A>G rs3135826
NM_022970.3(FGFR2):c.*469G>A rs41294351
NM_022970.3(FGFR2):c.*497T>C rs3135827
NM_022970.3(FGFR2):c.*641_*644del rs548465887
NM_022970.3(FGFR2):c.*674G>T rs566155088
NM_022970.3(FGFR2):c.*736dup rs886046762
NM_022970.3(FGFR2):c.*921G>A rs185617859
NM_022970.3(FGFR2):c.-128G>A rs547739869
NM_022970.3(FGFR2):c.-129C>T rs886046765
NM_022970.3(FGFR2):c.-135C>T rs554557891
NM_022970.3(FGFR2):c.-157A>G rs41258305
NM_022970.3(FGFR2):c.-165G>A rs886046766
NM_022970.3(FGFR2):c.-236G>A rs1047111
NM_022970.3(FGFR2):c.-236G>C rs1047111
NM_022970.3(FGFR2):c.-298_-297dup rs41301549
NM_022970.3(FGFR2):c.-318G>C rs41301547
NM_022970.3(FGFR2):c.-358C>T rs41301545
NM_022970.3(FGFR2):c.-371C>T rs527570655
NM_022970.3(FGFR2):c.-458C>A rs41301043
NM_022970.3(FGFR2):c.-46G>A rs201606812
NM_022970.3(FGFR2):c.-535G>C rs886046767
NM_022970.3(FGFR2):c.-622G>A rs886046768
NM_022970.3(FGFR2):c.-74G>A rs4647922
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1182A>T (p.Val394=) rs886046763
NM_022970.3(FGFR2):c.1242G>A (p.Pro414=) rs147674677
NM_022970.3(FGFR2):c.1542C>A (p.Thr514=) rs74160617
NM_022970.3(FGFR2):c.1551G>A (p.Val517=) rs200522893
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.1777C>T (p.Arg593Cys) rs141929882
NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_022970.3(FGFR2):c.1944C>T (p.Leu648=) rs35337478
NM_022970.3(FGFR2):c.2004C>G (p.Val668=) rs61731218
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.2418C>T (p.Tyr806=) rs558460047
NM_022970.3(FGFR2):c.2419G>A (p.Glu807Lys) rs764959117
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_022970.3(FGFR2):c.879C>T (p.His293=) rs55745510
NM_022970.3(FGFR2):c.939+11T>C rs145303463
NM_023110.2(FGFR1):c.*1026T>C rs542417198
NM_023110.2(FGFR1):c.*1052C>T rs17176088
NM_023110.2(FGFR1):c.*113G>A rs180885042
NM_023110.2(FGFR1):c.*1144G>A rs886062911
NM_023110.2(FGFR1):c.*118C>T rs886062916
NM_023110.2(FGFR1):c.*1211G>T rs185104092
NM_023110.2(FGFR1):c.*1218T>C rs886062910
NM_023110.2(FGFR1):c.*1286C>T rs886062909
NM_023110.2(FGFR1):c.*1439T>C rs11990198
NM_023110.2(FGFR1):c.*1498C>T rs17182484
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.*1632A>G rs13317
NM_023110.2(FGFR1):c.*1770G>A rs183394116
NM_023110.2(FGFR1):c.*1822A>C rs570038633
NM_023110.2(FGFR1):c.*1965G>A rs886062907
NM_023110.2(FGFR1):c.*2057C>T rs556829066
NM_023110.2(FGFR1):c.*2099T>G rs16887356
NM_023110.2(FGFR1):c.*2188T>C rs146463691
NM_023110.2(FGFR1):c.*2391A>G rs185729862
NM_023110.2(FGFR1):c.*2407C>T rs758524862
NM_023110.2(FGFR1):c.*2434C>T rs565758830
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.*569C>T rs17182470
NM_023110.2(FGFR1):c.*70C>T rs886062918
NM_023110.2(FGFR1):c.*71A>G rs886062917
NM_023110.2(FGFR1):c.*723G>C rs17182477
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.*963C>T rs567128409
NM_023110.2(FGFR1):c.-124G>A rs17182079
NM_023110.2(FGFR1):c.-270G>A rs578030717
NM_023110.2(FGFR1):c.-286C>T rs4647909
NM_023110.2(FGFR1):c.-338T>G rs527518565
NM_023110.2(FGFR1):c.-358C>T rs17175673
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.-853G>C rs553799602
NM_023110.2(FGFR1):c.-881G>A rs17182051
NM_023110.2(FGFR1):c.1082-13C>T rs185831613
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+13T>C rs763815221
NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2293-11G>A rs886062919
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) rs758677681
NM_023110.2(FGFR1):c.273C>T (p.Ser91=) rs201823433
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.359-13C>G rs376369060
NM_023110.2(FGFR1):c.359-4A>G rs185233212
NM_023110.2(FGFR1):c.375G>A (p.Ser125=) rs17182296
NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) rs201054877
NM_023110.2(FGFR1):c.449-7C>T rs754454127
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.549C>T (p.Thr183=) rs886062920
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
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.91+6G>T rs886062921

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