ClinVar Miner

List of variants studied for Lysosomal acid lipase deficiency by GENinCode PLC

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000235.4(LIPA):c.112-6C>T rs141302830 0.00063
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000235.4(LIPA):c.372C>G (p.Thr124=) rs532740212 0.00007
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000235.4(LIPA):c.1053C>T (p.Tyr351=) rs754591708 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.630T>C (p.Thr210=) rs1253166155 0.00001
NM_000235.4(LIPA):c.1002T>C (p.Leu334=) rs1842606079
NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)
NM_000235.4(LIPA):c.347G>A (p.Trp116Ter)
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.831G>T (p.Val277=)
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197

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