ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.-218C>T rs3755141 0.22352
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09474
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_014140.4(SMARCAL1):c.-137A>G rs115172989 0.02152
NM_014140.4(SMARCAL1):c.-200G>A rs79352134 0.02034
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916 0.00775
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_014140.4(SMARCAL1):c.*30T>G rs186052380 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_014140.4(SMARCAL1):c.-141G>A rs542884297 0.00148
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014140.4(SMARCAL1):c.-114G>A rs561221026 0.00058
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_014140.4(SMARCAL1):c.-164G>A rs767342189 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00009
NM_014140.4(SMARCAL1):c.812-15T>C rs375588610 0.00009
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His) rs141881295 0.00005
NM_014140.4(SMARCAL1):c.*13G>T rs760333596 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014140.3(SMARCAL1):c.-316T>C rs1158002165 0.00003
NM_014140.4(SMARCAL1):c.-48C>A rs576450027 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 0.00002
NM_014140.3(SMARCAL1):c.-300G>C rs549159106 0.00001
NM_014140.4(SMARCAL1):c.-170C>T rs886055614 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 0.00001
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) rs1322248626 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00001
NM_014140.3(SMARCAL1):c.-262C>G rs567657407
NM_014140.4(SMARCAL1):c.-82T>C rs886055615
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154
NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser) rs1693565636
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His) rs985760536
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu) rs1693575449
NM_014140.4(SMARCAL1):c.863-4G>T rs1693689203
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288

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