ClinVar Miner

List of variants studied for Schimke immunoosseous dysplasia by Illumina Clinical Services Laboratory,Illumina

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Total variants: 37
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HGVS dbSNP
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.*13G>T rs760333596
NM_014140.3(SMARCAL1):c.*30T>G rs186052380
NM_014140.3(SMARCAL1):c.-114G>A rs561221026
NM_014140.3(SMARCAL1):c.-137A>G rs115172989
NM_014140.3(SMARCAL1):c.-141G>A rs542884297
NM_014140.3(SMARCAL1):c.-164G>A rs767342189
NM_014140.3(SMARCAL1):c.-170C>T rs886055614
NM_014140.3(SMARCAL1):c.-200G>A rs79352134
NM_014140.3(SMARCAL1):c.-218C>T rs3755141
NM_014140.3(SMARCAL1):c.-48C>A rs576450027
NM_014140.3(SMARCAL1):c.-82T>C rs886055615
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819
NM_014140.3(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2528+15G>A rs200879397
NM_014140.3(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) rs11555797
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=) rs530505647
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) rs199805770
NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616
NM_014140.3(SMARCAL1):c.812-15T>C rs375588610
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513

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