ClinVar Miner

List of variants in gene OBSL1 reported as benign for Three M syndrome

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Total variants: 17
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HGVS dbSNP
NM_015311.3(OBSL1):c.-43del rs747020402
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477
NM_015311.3(OBSL1):c.5309-4C>G rs34490902
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675

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