ClinVar Miner

List of variants studied for Sclerosteosis 1 by Illumina Laboratory Services, Illumina

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_025237.3(SOST):c.*1004G>A rs17886183 0.10131
NM_025237.3(SOST):c.*1394C>G rs75335214 0.09237
NM_025237.3(SOST):c.*866C>T rs75901553 0.04189
NM_025237.3(SOST):c.*320C>T rs17883310 0.01264
NM_025237.3(SOST):c.28G>A (p.Val10Ile) rs17882143 0.01107
NM_025237.3(SOST):c.*562G>A rs17881518 0.00836
NM_025237.3(SOST):c.*178C>T rs116799821 0.00645
NM_025237.3(SOST):c.*222A>G rs544576964 0.00323
NM_025237.3(SOST):c.-21T>G rs202008449 0.00319
NM_025237.3(SOST):c.-10G>A rs190743758 0.00262
NM_025237.3(SOST):c.*1391G>C rs144304911 0.00239
NM_025237.3(SOST):c.*902T>C rs531006039 0.00073
NM_025237.3(SOST):c.153G>A (p.Glu51=) rs150640883 0.00039
NM_025237.3(SOST):c.*203G>A rs753407763 0.00018
NM_025237.3(SOST):c.*314C>G rs765892196 0.00014
NM_025237.3(SOST):c.*666T>C rs538476059 0.00011
NM_025237.3(SOST):c.56G>A (p.Arg19His) rs199514554 0.00011
NM_025237.3(SOST):c.*1529T>C rs182899606 0.00006
NM_025237.3(SOST):c.114C>T (p.Pro38=) rs750870565 0.00005
NM_025237.3(SOST):c.*1363C>T rs918885949 0.00003
NM_025237.3(SOST):c.*219T>C rs1017350702 0.00003
NM_025237.3(SOST):c.*1267C>G rs76802447 0.00002
NM_025237.3(SOST):c.143C>T (p.Pro48Leu) rs779039644 0.00002
NM_025237.3(SOST):c.177G>A (p.Ala59=) rs201706408 0.00002
NM_025237.3(SOST):c.*1176A>G rs886052978 0.00001
NM_025237.3(SOST):c.*1498G>A rs866808140 0.00001
NM_025237.3(SOST):c.*689T>C rs1470510281 0.00001
NM_025237.3(SOST):c.303C>T (p.Thr101=) rs758794256 0.00001
NM_025237.3(SOST):c.461C>T (p.Pro154Leu) rs760883576 0.00001
NM_025237.3(SOST):c.*1063C>T rs1352568425
NM_025237.3(SOST):c.*1402T>G rs1974097858
NM_025237.3(SOST):c.*140A>G rs886052979
NM_025237.3(SOST):c.*569G>T rs1974108139
NM_025237.3(SOST):c.*883A>T rs1974104389
NM_025237.3(SOST):c.328G>A (p.Gly110Ser) rs886052981
NM_025237.3(SOST):c.448G>A (p.Gly150Ser) rs548849329
NM_025237.3(SOST):c.533A>G (p.Glu178Gly) rs886052980

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