ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000235.4(LIPA):c.*1093C>T rs13500
NM_000235.4(LIPA):c.*1187C>A rs78931290
NM_000235.4(LIPA):c.*841C>G rs116074523
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134

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