ClinVar Miner

List of variants in gene GRN reported as pathogenic for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1073_1074dup (p.Ala359fs) rs1567887567
NM_002087.4(GRN):c.1216del (p.Gln406fs) rs2143344327
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1420_1421del (p.Cys474fs) rs2048384991
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs) rs1555611439
NM_002087.4(GRN):c.1496del (p.Val499fs) rs2143347736
NM_002087.4(GRN):c.154del (p.Thr52fs) rs63751092
NM_002087.4(GRN):c.1558G>T (p.Glu520Ter) rs2143348249
NM_002087.4(GRN):c.243del (p.Ser82fs) rs63751193
NM_002087.4(GRN):c.25del (p.Ala9fs) rs2048347685
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.384_387del (p.Gln130fs) rs63750768
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.530_543del (p.Arg177fs)
NM_002087.4(GRN):c.592_593del (p.Arg198fs) rs1555611136
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.776dup (p.Cys260fs) rs1567887015
NM_002087.4(GRN):c.78C>A (p.Cys26Ter) rs2143325486
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) rs1598364782

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