ClinVar Miner

List of variants in gene GRN, LOC125177489 studied for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
NM_002087.4(GRN):c.701T>G (p.Met234Arg) rs2143335468
NM_002087.4(GRN):c.708+15G>A rs765540363
NM_002087.4(GRN):c.708+1G>C rs63749817
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.709-5C>T
NM_002087.4(GRN):c.711del (p.Thr238fs)
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
NM_002087.4(GRN):c.724G>C (p.Asp242His)
NM_002087.4(GRN):c.741C>T (p.Cys247=)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.744C>T (p.Pro248=)

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