ClinVar Miner

List of variants in gene NPC1L1 reported as benign for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001101648.2(NPC1L1):c.2463T>G (p.Pro821=) rs113377432 0.00774
NM_001101648.2(NPC1L1):c.2505T>C (p.Ala835=) rs114374279 0.00769
NM_001101648.2(NPC1L1):c.3200G>A (p.Arg1067Gln) rs115395682 0.00674
NM_001101648.2(NPC1L1):c.3080+9G>A rs147519851 0.00658
NM_001101648.2(NPC1L1):c.2673C>T (p.Asn891=) rs114239819 0.00477
NM_001101648.2(NPC1L1):c.2920C>T (p.Pro974Ser) rs149782907 0.00432
NM_001101648.2(NPC1L1):c.817G>T (p.Asp273Tyr) rs138140250 0.00153
NM_001101648.2(NPC1L1):c.3259G>C (p.Asp1087His) rs79519744

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