ClinVar Miner

List of variants in gene SMARCAL1 reported as uncertain significance for Schimke immunoosseous dysplasia

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Total variants: 61
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HGVS dbSNP
NC_000002.11:g.(?_217280960)_(217281050_?)del
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.-141G>A rs542884297
NM_014140.3(SMARCAL1):c.-164G>A rs767342189
NM_014140.3(SMARCAL1):c.-170C>T rs886055614
NM_014140.3(SMARCAL1):c.-48C>A rs576450027
NM_014140.3(SMARCAL1):c.-82T>C rs886055615
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys)
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825
NM_014140.3(SMARCAL1):c.1069T>A (p.Phe357Ile)
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.1297G>A (p.Val433Met)
NM_014140.3(SMARCAL1):c.1317T>G (p.Phe439Leu)
NM_014140.3(SMARCAL1):c.1375G>A (p.Asp459Asn)
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.1427G>A (p.Arg476Gln) rs142164846
NM_014140.3(SMARCAL1):c.1453G>T (p.Val485Leu)
NM_014140.3(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.3(SMARCAL1):c.1553G>A (p.Arg518His)
NM_014140.3(SMARCAL1):c.1594C>T (p.Leu532Phe)
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109
NM_014140.3(SMARCAL1):c.179A>C (p.Glu60Ala)
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser)
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr)
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val)
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met)
NM_014140.3(SMARCAL1):c.2528+15G>A rs200879397
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile)
NM_014140.3(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564
NM_014140.3(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.488C>A (p.Thr163Asn)
NM_014140.3(SMARCAL1):c.565A>G (p.Lys189Glu)
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.734G>A (p.Gly245Asp)
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=) rs149510554
NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616
NM_014140.3(SMARCAL1):c.776T>C (p.Ile259Thr)
NM_014140.3(SMARCAL1):c.812-15T>C rs375588610
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser)
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950

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