ClinVar Miner

List of variants studied for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
NC_000001.10:g.(?_2160186)_(2238224_?)dup
NC_000001.10:g.(?_955543)_(2957600_?)del
NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe) rs371268096
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1211+10C>T rs200242660
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.123C>G (p.Arg41=) rs1233566903
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1315G>A (p.Val439Ile) rs575093513
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006
NM_003036.4(SKI):c.1439_1444CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.4(SKI):c.1620G>A (p.Ala540=) rs529842293
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
NM_003036.4(SKI):c.1767+6C>T rs780191562
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys) rs863223727
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.4(SKI):c.1860C>T (p.Arg620=) rs1002513362
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1967C>T (p.Ala656Val) rs571976990
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
NM_003036.4(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
NM_003036.4(SKI):c.1998+6C>T rs1265118842
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg) rs1060502673
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855
NM_003036.4(SKI):c.2028C>G (p.His676Gln) rs1203179478
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2092C>G (p.Leu698Val) rs766929334
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly) rs1553201549
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.229C>T (p.Pro77Ser) rs1370601989
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
NM_003036.4(SKI):c.248C>T (p.Pro83Leu) rs1060502672
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) rs398122914
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.461C>T (p.Thr154Met) rs1275592565
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.59C>T (p.Thr20Met) rs1060502671
NM_003036.4(SKI):c.62T>G (p.Leu21Arg) rs869312902
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del) rs1553189986
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.4(SKI):c.879C>T (p.Gly293=)
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483
NM_003036.4(SKI):c.923A>G (p.Lys308Arg) rs1276404635
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352
NM_015634.3(KIFBP):c.604_605del (p.Arg202Ilefs) rs730882151
NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter) rs121434515
NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter) rs121434514
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150

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