ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_000271.5(NPC1):c.2131-306C>T rs2510343 0.01805
NM_000271.5(NPC1):c.181-290T>C rs76327124 0.01790
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000271.5(NPC1):c.2911+339C>T rs2282558 0.01491
NM_000271.5(NPC1):c.3754+203G>T rs73392108 0.01489
NM_000271.5(NPC1):c.1554-186T>G rs112768834 0.01474
NM_000271.5(NPC1):c.1554-1249G>A rs78181160 0.01412
NM_000271.5(NPC1):c.2245+114_2245+115insC rs552028482 0.01319
NM_000271.5(NPC1):c.2605-149G>A rs113027965 0.01297
NM_000271.5(NPC1):c.3754+108T>G rs112570895 0.01295
NM_000271.5(NPC1):c.3591+265C>T rs117709214 0.01281
NM_000271.5(NPC1):c.3246-190T>G rs151243029 0.01258
NM_000271.5(NPC1):c.1654+250C>T rs7236499 0.01257
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000271.4(NPC1):c.-179C>T rs145693774 0.01171
NM_000271.5(NPC1):c.*164T>C rs8086463 0.01169
NM_000271.5(NPC1):c.1326+130_1326+131del rs145971241 0.01125
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.181-88A>G rs76233399 0.01024
NM_000271.5(NPC1):c.1654+311C>T rs115723627 0.00958
NM_000271.5(NPC1):c.3592-208G>A rs138816633 0.00909
NM_000271.5(NPC1):c.1553+327G>A rs148115026 0.00667
NM_000271.5(NPC1):c.*309_*315del rs145236115 0.00648
NM_000271.5(NPC1):c.632-199G>A rs148583874 0.00636
NM_000271.5(NPC1):c.881+196A>G rs140270424 0.00636
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_000271.5(NPC1):c.881+153A>G rs76772374 0.00514
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.1554-871G>A rs138123644 0.00431
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.463+100T>C rs56266324 0.00403
NM_000271.5(NPC1):c.464-253C>T rs55740456 0.00403
NM_000271.5(NPC1):c.3592-148A>G rs146219325 0.00378
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000271.5(NPC1):c.463+83C>T rs144947594 0.00360
NM_000271.5(NPC1):c.1554-877C>G rs149568886 0.00356
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000271.5(NPC1):c.1326+293A>G rs114021368 0.00347
NM_000271.5(NPC1):c.1947+180G>T rs138946913 0.00347
NM_000271.5(NPC1):c.3245+130G>A rs141281676 0.00346
NM_000271.5(NPC1):c.58-273C>T rs538915777 0.00328
NM_000271.5(NPC1):c.2796-133T>C rs150105230 0.00298
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000271.5(NPC1):c.58-105C>T rs148442560 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.1554-1010C>T rs142706876 0.00046
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000271.5(NPC1):c.2130+26T>A rs201543574 0.00006
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 0.00003
NM_000271.5(NPC1):c.127G>A (p.Glu43Lys) rs138277307 0.00001
NM_000271.5(NPC1):c.444C>T (p.Val148=) rs899764342 0.00001
NM_000271.5(NPC1):c.888G>A (p.Arg296=) rs369775984 0.00001
NC_000018.9:g.21124907_21124908insCCGCC rs55809701
NM_000271.5(NPC1):c.1326+176_1326+178del rs142916225
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.1655-248_1655-245dup rs34182768
NM_000271.5(NPC1):c.1655-248_1655-246dup rs34182768
NM_000271.5(NPC1):c.1911A>C (p.Leu637=)
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1948-164C>A rs1652372
NM_000271.5(NPC1):c.1948-164C>G rs1652372
NM_000271.5(NPC1):c.2130+7T>G rs1358733869
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2245+121_2245+122insC rs71373350
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000271.5(NPC1):c.2911+224C>T rs59792558
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.3042-159G>C rs1788822
NM_000271.5(NPC1):c.3042-205dup rs562891401
NM_000271.5(NPC1):c.3246-309_3246-306del rs61583208
NM_000271.5(NPC1):c.3246-312dup rs61583208
NM_000271.5(NPC1):c.3478-119C>A rs141606629
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3755-72G>T rs144276146
NM_000271.5(NPC1):c.463+190G>A rs113021746
NM_000271.5(NPC1):c.58-281_58-278del rs146504010
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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