ClinVar Miner

List of variants in gene NPC1 reported as likely benign for not provided

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_000271.5(NPC1):c.1131A>T (p.Pro377=) rs1164106395
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630
NM_000271.5(NPC1):c.1452G>C (p.Val484=) rs1191599177
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801
NM_000271.5(NPC1):c.1533G>C (p.Thr511=) rs778890495
NM_000271.5(NPC1):c.1554-1010C>T rs142706876
NM_000271.5(NPC1):c.1554-1016C>T rs145998218
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.180+8C>T rs778096289
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+7_1947+9dup rs1555634685
NM_000271.5(NPC1):c.1974C>T (p.Ile658=) rs760323508
NM_000271.5(NPC1):c.1998C>T (p.Ser666=) rs373250439
NM_000271.5(NPC1):c.2001G>T (p.Ser667=) rs762100560
NM_000271.5(NPC1):c.2043C>G (p.Pro681=) rs754244869
NM_000271.5(NPC1):c.2046G>A (p.Leu682=) rs1598954616
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2130+26T>A rs201543574
NM_000271.5(NPC1):c.2130+7T>G rs1358733869
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2296T>C (p.Leu766=) rs1598948918
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.2604+7_2604+9dup rs762002508
NM_000271.5(NPC1):c.2817C>G (p.Pro939=) rs747681496
NM_000271.5(NPC1):c.2912-6C>T rs768256586
NM_000271.5(NPC1):c.3006C>T (p.Phe1002=) rs1459424416
NM_000271.5(NPC1):c.3042-9T>C rs1598939834
NM_000271.5(NPC1):c.3245+10G>A rs375928251
NM_000271.5(NPC1):c.3273C>T (p.Tyr1091=) rs1598937493
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3387C>T (p.Ala1129=) rs746670383
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
NM_000271.5(NPC1):c.3558C>G (p.Arg1186=) rs141659629
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.36G>A (p.Leu12=) rs1599033687
NM_000271.5(NPC1):c.3750C>T (p.Tyr1250=) rs758814720
NM_000271.5(NPC1):c.420T>C (p.Asn140=) rs369039319
NM_000271.5(NPC1):c.631+7A>G rs886044570
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.756G>A (p.Gln252=) rs768008295
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602
NM_000271.5(NPC1):c.915C>T (p.Ile305=) rs1452021800
NM_000271.5(NPC1):c.956-7C>T rs537484682

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