ClinVar Miner

List of variants reported as likely benign 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: 66
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HGVS dbSNP
NM_015850.4(FGFR1):c.*2104del rs201364530
NM_022970.3(FGFR2):c.*111G>A rs574474794
NM_022970.3(FGFR2):c.*1301C>T rs71640261
NM_022970.3(FGFR2):c.*1319A>G rs3135830
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.*324A>G rs150519853
NM_022970.3(FGFR2):c.*403A>G rs3135826
NM_022970.3(FGFR2):c.*641_*644del rs548465887
NM_022970.3(FGFR2):c.*921G>A rs185617859
NM_022970.3(FGFR2):c.-135C>T rs554557891
NM_022970.3(FGFR2):c.-298_-297dup rs41301549
NM_022970.3(FGFR2):c.-358C>T rs41301545
NM_022970.3(FGFR2):c.-458C>A rs41301043
NM_022970.3(FGFR2):c.-46G>A rs201606812
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.1242G>A (p.Pro414=) rs147674677
NM_022970.3(FGFR2):c.1551G>A (p.Val517=) rs200522893
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.2004C>G (p.Val668=) rs61731218
NM_022970.3(FGFR2):c.2418C>T (p.Tyr806=) rs558460047
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.625-10A>G rs201512833
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.*1211G>T rs185104092
NM_023110.2(FGFR1):c.*1439T>C rs11990198
NM_023110.2(FGFR1):c.*1498C>T rs17182484
NM_023110.2(FGFR1):c.*1770G>A rs183394116
NM_023110.2(FGFR1):c.*1822A>C rs570038633
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.*2434C>T rs565758830
NM_023110.2(FGFR1):c.*569C>T rs17182470
NM_023110.2(FGFR1):c.*723G>C rs17182477
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.-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.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.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.449-9C>G rs17182303
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898

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