ClinVar Miner

List of variants in gene NPC1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
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.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_000271.4(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.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.-32C>T rs114070977 0.00885
NM_000271.5(NPC1):c.1553+327G>A rs148115026 0.00667
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.881+153A>G rs76772374 0.00514
NM_000271.5(NPC1):c.1554-871G>A rs138123644 0.00431
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.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.463+19A>G rs117512587 0.00252
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.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.631+17C>T rs115397659 0.00083
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486 0.00001
NM_000271.5(NPC1):c.1326+176_1326+178del rs142916225
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.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1948-164C>A rs1652372
NM_000271.5(NPC1):c.1948-164C>G rs1652372
NM_000271.5(NPC1):c.2245+121_2245+122insC rs71373350
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.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

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