ClinVar Miner

List of variants reported as pathogenic for late infantile neuronal ceroid lipofuscinosis by Mendelics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.899del (p.Gly300fs) rs2134593910
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter) rs370663969
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs) rs2148922004
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]

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