ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232

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