ClinVar Miner

List of variants in gene LIPA reported as likely pathogenic for Wolman disease

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.111+1G>A rs762960877 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.675+2T>G rs1564753490 0.00001
NM_000235.4(LIPA):c.822+1G>A rs1204744283 0.00001
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) rs754964952 0.00001
NC_000010.10:g.(?_90974575)_(90975776_?)del
NC_000010.11:g.(?_89214808)_(89216029_?)del
NM_000235.4(LIPA):c.1027_1029dup (p.Gly343dup) rs2133411859
NM_000235.4(LIPA):c.112-1G>C
NM_000235.4(LIPA):c.1122T>G (p.His374Gln)
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs) rs2133411275
NM_000235.4(LIPA):c.230-2del
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.428+2T>C
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe) rs1842777072
NM_000235.4(LIPA):c.538+5G>A
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.617_619dup (p.Val206dup) rs2133429462
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
NM_000235.4(LIPA):c.822+1G>T
NM_000235.4(LIPA):c.823-1G>A
NM_000235.4(LIPA):c.823-2A>G
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser) rs756310979
NM_000235.4(LIPA):c.884A>C (p.His295Pro)
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg) rs1589548972

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