ClinVar Miner

List of variants in gene APOB studied for Hypobetalipoproteinemia, familial, 1

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Total variants: 11
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HGVS dbSNP
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970
NM_000384.3(APOB):c.1830-1G>A rs1399892057
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.2988_2994del (p.Gly997fs) rs1057518647
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.386A>G (p.Tyr129Cys) rs201368319
NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954
NM_000384.3(APOB):c.5116dup (p.Thr1706fs) rs1553383931
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.3(APOB):c.9523del (p.Ala3175fs) rs878853973

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