ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018941.4(CLN8):c.416A>G (p.His139Arg) rs1195769874 0.00001
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
NM_000310.4(PPT1):c.146T>G (p.Leu49Ter) rs1557714302
NM_000391.4(TPP1):c.230-2A>G
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) rs1578889355
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232

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