ClinVar Miner

List of variants in gene LIPA reported as benign by Genome-Nilou Lab

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.-1-64G>T rs2250781 0.58801
NM_000235.4(LIPA):c.675+62A>C rs2297473 0.32967
NM_000235.4(LIPA):c.676-42G>A rs1556478 0.32749
NM_000235.4(LIPA):c.966+46C>T rs3802656 0.29308
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.539-5C>T rs2297472

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