ClinVar Miner

List of variants in gene OBSL1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) rs1335171880
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) rs121918216
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) rs1559160379
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488

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