ClinVar Miner

List of variants reported as not provided for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197 0.00009
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556 0.00005
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_022089.4(ATP13A2):c.*24C>T rs375521810 0.00003
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195 0.00002
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) rs121908206
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.1361C>A (p.Ala454Glu) rs121908201
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.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) rs121908196
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_003793.4(CTSF):c.1211T>C (p.Ile404Thr)
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064

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