ClinVar Miner

List of variants reported as not provided for Ceroid lipofuscinosis neuronal 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) rs121908206
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) rs121908198
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) rs121908201
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) rs121908208
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) rs121908210
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) rs121908196

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.