ClinVar Miner

List of variants in gene NPC2 reported as likely benign for Niemann-Pick disease type C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006432.5(NPC2):c.330G>C (p.Leu110=) rs762424530 0.00006
NM_006432.5(NPC2):c.264T>C (p.Pro88=) rs1011669605 0.00005
NM_006432.5(NPC2):c.30C>T (p.Leu10=) rs142190691 0.00005
NM_006432.5(NPC2):c.168C>T (p.Ser56=) rs761208847 0.00004
NM_006432.5(NPC2):c.190+17C>G rs572299295 0.00004
NM_006432.5(NPC2):c.442-8A>C rs758764082 0.00004
NM_006432.5(NPC2):c.57C>T (p.Ala19=) rs752818745 0.00004
NM_006432.5(NPC2):c.216C>T (p.Ala72=) rs773861377 0.00003
NM_006432.5(NPC2):c.453C>G (p.Leu151=) rs766378122 0.00003
NM_006432.5(NPC2):c.83-4G>A rs758359849 0.00003
NM_006432.5(NPC2):c.207C>T (p.Ser69=) rs970173671 0.00002
NM_006432.5(NPC2):c.45C>A (p.Thr15=) rs1025180543 0.00002
NM_006432.5(NPC2):c.129C>T (p.Pro43=) rs760668431 0.00001
NM_006432.5(NPC2):c.150C>T (p.Ser50=) rs2086712392 0.00001
NM_006432.5(NPC2):c.183C>T (p.Phe61=) rs768296377 0.00001
NM_006432.5(NPC2):c.190+6dup rs770729278 0.00001
NM_006432.5(NPC2):c.191-10T>C rs907643924 0.00001
NM_006432.5(NPC2):c.191-8T>C rs1404077821 0.00001
NM_006432.5(NPC2):c.222G>A (p.Val74=) rs763523833 0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.312C>T (p.Asp104=) rs751455041 0.00001
NM_006432.5(NPC2):c.318C>G (p.Thr106=) rs763613633 0.00001
NM_006432.5(NPC2):c.364-11T>C rs751545027 0.00001
NM_006432.5(NPC2):c.364-13T>C rs897207821 0.00001
NM_006432.5(NPC2):c.370C>T (p.Leu124=) rs757968557 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.429C>A (p.Ile143=) rs528199992 0.00001
NM_006432.5(NPC2):c.441+9A>G rs372464598 0.00001
NM_006432.5(NPC2):c.455A>G (p.Ter152=) rs1162911732 0.00001
NM_006432.5(NPC2):c.63G>A (p.Pro21=) rs1299194959 0.00001
NM_006432.5(NPC2):c.69G>A (p.Gln23=) rs760160779 0.00001
NM_006432.5(NPC2):c.82+15C>G rs1261259335 0.00001
NM_006432.5(NPC2):c.82+7C>T rs771418765 0.00001
NM_006432.5(NPC2):c.82+9C>T rs553819330 0.00001
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
NM_006432.5(NPC2):c.117G>T (p.Val39=)
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
NM_006432.5(NPC2):c.190+14G>T
NM_006432.5(NPC2):c.190+16T>C
NM_006432.5(NPC2):c.190+17C>T
NM_006432.5(NPC2):c.191-14T>C
NM_006432.5(NPC2):c.191-18T>C
NM_006432.5(NPC2):c.191-18del
NM_006432.5(NPC2):c.191-4T>A
NM_006432.5(NPC2):c.191-7C>G rs2086689980
NM_006432.5(NPC2):c.216C>A (p.Ala72=) rs773861377
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
NM_006432.5(NPC2):c.21A>G (p.Thr7=) rs150211005
NM_006432.5(NPC2):c.222G>C (p.Val74=) rs763523833
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
NM_006432.5(NPC2):c.25C>T (p.Leu9=) rs1033995785
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
NM_006432.5(NPC2):c.27G>A (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.27G>C (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
NM_006432.5(NPC2):c.318C>T (p.Thr106=) rs763613633
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
NM_006432.5(NPC2):c.327C>T (p.Tyr109=) rs2139667951
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
NM_006432.5(NPC2):c.363+13A>G
NM_006432.5(NPC2):c.363+16_363+18del rs747880187
NM_006432.5(NPC2):c.363+17T>C
NM_006432.5(NPC2):c.363+18T>A
NM_006432.5(NPC2):c.363+20A>G
NM_006432.5(NPC2):c.364-10C>T rs2086648557
NM_006432.5(NPC2):c.364-20T>C
NM_006432.5(NPC2):c.364-20T>G
NM_006432.5(NPC2):c.364-8T>G rs1352203929
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
NM_006432.5(NPC2):c.372G>C (p.Leu124=) rs2139664545
NM_006432.5(NPC2):c.375G>A (p.Val125=) rs2139664539
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
NM_006432.5(NPC2):c.441+10T>C
NM_006432.5(NPC2):c.441+13G>A
NM_006432.5(NPC2):c.441+13G>T
NM_006432.5(NPC2):c.441+16G>T
NM_006432.5(NPC2):c.441+17G>C
NM_006432.5(NPC2):c.441+8T>C
NM_006432.5(NPC2):c.441+9A>T rs372464598
NM_006432.5(NPC2):c.442-10A>G
NM_006432.5(NPC2):c.442-13A>G
NM_006432.5(NPC2):c.442-17G>A
NM_006432.5(NPC2):c.442-17G>C
NM_006432.5(NPC2):c.442-4A>G rs114950106
NM_006432.5(NPC2):c.442-8A>G
NM_006432.5(NPC2):c.442-9C>T
NM_006432.5(NPC2):c.453C>T (p.Leu151=) rs766378122
NM_006432.5(NPC2):c.51C>A (p.Ala17=) rs1260452199
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
NM_006432.5(NPC2):c.82+10A>C
NM_006432.5(NPC2):c.82+12G>A
NM_006432.5(NPC2):c.82+13C>A
NM_006432.5(NPC2):c.82+15C>A
NM_006432.5(NPC2):c.82+15C>T
NM_006432.5(NPC2):c.82+16G>A
NM_006432.5(NPC2):c.82+6dup rs2139676497
NM_006432.5(NPC2):c.82+8C>G
NM_006432.5(NPC2):c.83-11T>C
NM_006432.5(NPC2):c.83-15A>G rs1405062063
NM_006432.5(NPC2):c.83-19A>G rs2139670208
NM_006432.5(NPC2):c.83-20A>G
NM_006432.5(NPC2):c.83-5T>C
NM_006432.5(NPC2):c.83-8T>G
NM_006432.5(NPC2):c.9C>T (p.Phe3=) rs1300524708

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