ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia by Invitae

Included ClinVar conditions (1):
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Total variants: 60
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HGVS dbSNP
NC_000002.11:g.(?_217279418)_(217281040_?)del
NC_000002.11:g.(?_217280960)_(217281050_?)del
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys)
NM_014140.3(SMARCAL1):c.1069T>A (p.Phe357Ile)
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs) rs766291662
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916
NM_014140.3(SMARCAL1):c.1248dup (p.Thr417fs)
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.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.1453G>T (p.Val485Leu)
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.1732T>C (p.Leu578=) rs370667576
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.1933C>T (p.Arg645Cys) rs119473037
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser)
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr)
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071
NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter) rs149425324
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val)
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met)
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile)
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.268_269CA[1] (p.His90fs)
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214
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.341G>A (p.Arg114His) rs11555797
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.603G>C (p.Gly201=) rs35048226
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.776T>C (p.Ile259Thr)
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser)
NM_014140.3(SMARCAL1):c.863-2A>G
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513

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