ClinVar Miner

List of variants reported as likely benign for Schimke immuno-osseous dysplasia by Invitae

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Total variants: 40
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
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.1732T>C (p.Leu578=) rs370667576
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758
NM_014140.3(SMARCAL1):c.2427+9C>T rs201601053
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020
NM_014140.4(SMARCAL1):c.1486-6C>T rs1390292771
NM_014140.4(SMARCAL1):c.1645-10T>C rs780292291
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) rs763289234
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=) rs777370537
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) rs1360338749
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) rs775975242
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=) rs2066517
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) rs750345128
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=) rs1574442911
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) rs146658939

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