ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by MGZ Medical Genetics Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465

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