ClinVar Miner

List of variants reported as pathogenic for Sitosterolemia by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919 0.00001
NC_000002.11:g.(?_44040255)_(44041748_?)del
NC_000002.11:g.(?_44065656)_(44105052_?)del
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) rs755809709
NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)
NM_022436.3(ABCG5):c.144-1G>A
NM_022436.3(ABCG5):c.145del (p.His49fs)
NM_022436.3(ABCG5):c.1528del (p.His510fs)
NM_022436.3(ABCG5):c.1528dup (p.His510fs)
NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)
NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)
NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)
NM_022436.3(ABCG5):c.1735G>T (p.Glu579Ter)
NM_022436.3(ABCG5):c.1763-1G>A
NM_022436.3(ABCG5):c.187C>T (p.Gln63Ter)
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) rs772295351
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) rs769429015
NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)
NM_022436.3(ABCG5):c.436G>T (p.Glu146Ter)
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)
NM_022436.3(ABCG5):c.904+1G>A
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350

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