ClinVar Miner

List of variants studied for Jackson-Weiss syndrome

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_000141.4(FGFR2):c.*1070T>C rs886046761
NM_000141.4(FGFR2):c.*111G>A rs574474794
NM_000141.4(FGFR2):c.*1126T>C rs370106008
NM_000141.4(FGFR2):c.*1287A>C rs886046760
NM_000141.4(FGFR2):c.*1301C>T rs71640261
NM_000141.4(FGFR2):c.*1319A>G rs3135830
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.*1498_*1502delATAAA rs566259479
NM_000141.4(FGFR2):c.*184C>T rs4647917
NM_000141.4(FGFR2):c.*197delA rs748777325
NM_000141.4(FGFR2):c.*259C>T rs1047057
NM_000141.4(FGFR2):c.*324A>G rs150519853
NM_000141.4(FGFR2):c.*403A>G rs3135826
NM_000141.4(FGFR2):c.*469G>A rs41294351
NM_000141.4(FGFR2):c.*497T>C rs3135827
NM_000141.4(FGFR2):c.*641_*644delTAAT rs548465887
NM_000141.4(FGFR2):c.*674G>T rs566155088
NM_000141.4(FGFR2):c.*736dupA rs886046762
NM_000141.4(FGFR2):c.*921G>A rs185617859
NM_000141.4(FGFR2):c.-128G>A rs547739869
NM_000141.4(FGFR2):c.-129C>T rs886046765
NM_000141.4(FGFR2):c.-135C>T rs554557891
NM_000141.4(FGFR2):c.-157A>G rs41258305
NM_000141.4(FGFR2):c.-165G>A rs886046766
NM_000141.4(FGFR2):c.-236G>A rs1047111
NM_000141.4(FGFR2):c.-236G>C rs1047111
NM_000141.4(FGFR2):c.-298_-297dupCC rs41301549
NM_000141.4(FGFR2):c.-318G>C rs41301547
NM_000141.4(FGFR2):c.-358C>T rs41301545
NM_000141.4(FGFR2):c.-371C>T rs527570655
NM_000141.4(FGFR2):c.-458C>A rs41301043
NM_000141.4(FGFR2):c.-46G>A rs201606812
NM_000141.4(FGFR2):c.-535G>C rs886046767
NM_000141.4(FGFR2):c.-622G>A rs886046768
NM_000141.4(FGFR2):c.-74G>A rs4647922
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.4(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.4(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492
NM_000141.4(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.4(FGFR2):c.1085-13A>T rs41295573
NM_000141.4(FGFR2):c.109+10T>G rs3135722
NM_000141.4(FGFR2):c.110-16_110-15delTC rs773932794
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.4(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.4(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.4(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.4(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.4(FGFR2):c.1562-11A>G rs41293744
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000141.4(FGFR2):c.1673-12C>T rs41293763
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000141.4(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882
NM_000141.4(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.4(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.4(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.4(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_000141.4(FGFR2):c.2301+15C>T rs2278202
NM_000141.4(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.4(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.4(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_000141.4(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.4(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.4(FGFR2):c.625-10A>G rs201512833
NM_000141.4(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.4(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.4(FGFR2):c.879C>T (p.His293=) rs55745510
NM_000141.4(FGFR2):c.939+11T>C rs145303463
NM_000141.4(FGFR2):c.989G>A (p.Arg330Gln)
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633

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