ClinVar Miner

Variants in gene LIPA with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP
NM_000235.4(LIPA):c.*876C>G rs141445686
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1068A>G (p.Leu356=)
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.1119G>A (p.Glu373=)
NM_000235.4(LIPA):c.112-9T>C rs200186130
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly) rs145163592
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614

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