ClinVar Miner

List of variants in gene NPC1L1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001101648.2(NPC1L1):c.661C>T (p.His221Tyr) rs114376659 0.00722
NM_001101648.2(NPC1L1):c.811G>T (p.Ala271Ser) rs139533378 0.00722
NM_001101648.2(NPC1L1):c.812C>T (p.Ala271Val) rs117724326 0.00721
NM_001101648.2(NPC1L1):c.529G>A (p.Val177Ile) rs149017550 0.00635
NM_001101648.2(NPC1L1):c.3137-1305A>G rs750811960 0.00038
NM_001101648.2(NPC1L1):c.3081C>T (p.Gly1027=) rs539209049 0.00004
NM_001101648.2(NPC1L1):c.3777C>T (p.Pro1259=) rs115281590

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