ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 5 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 36
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HGVS dbSNP
NM_006493.2(CLN5):c.-8G>A rs772316134
NM_006493.2(CLN5):c.127G>A (p.Gly43Arg) rs529998879
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.4(CLN5):c.*1169T>C rs573398552
NM_006493.4(CLN5):c.*1490A>G
NM_006493.4(CLN5):c.*163G>A
NM_006493.4(CLN5):c.*177A>C rs568174799
NM_006493.4(CLN5):c.*263A>T
NM_006493.4(CLN5):c.*468G>C
NM_006493.4(CLN5):c.*609A>G
NM_006493.4(CLN5):c.*614C>T
NM_006493.4(CLN5):c.*636A>G
NM_006493.4(CLN5):c.*721G>A rs145949751
NM_006493.4(CLN5):c.*833C>T
NM_006493.4(CLN5):c.*954T>C rs886050317
NM_006493.4(CLN5):c.*963T>G
NM_006493.4(CLN5):c.*975G>A
NM_006493.4(CLN5):c.-4C>T rs587780896
NM_006493.4(CLN5):c.-8G>A
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750
NM_006493.4(CLN5):c.864A>G (p.Ile288Met)

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