ClinVar Miner

List of variants studied for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) rs63750376
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) rs63751438
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
NM_001377265.1(MAPT):c.2091+13A>G rs63750308
NM_001377265.1(MAPT):c.2091+14C>T rs63750972
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+1G>A rs1568327531
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) rs63750092
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) rs63750570
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) rs63750711
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.154del (p.Thr52fs) rs63751092
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.3G>A (p.Met1Ile) rs63750331
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.709-1G>A rs2143337085
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.93_96dup (p.Asp33fs) rs606231220
NM_002087.4(GRN):c.998del (p.Gly333fs) rs63750873

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