ClinVar Miner

List of variants reported as pathogenic for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
GRN, 1-BP DEL, 102C
GRN, 1-BP DEL, 154A
GRN, 1-BP DEL, 998G
GRN, IVS0DS, G-C, +5
GRN, IVS6AS, A-G, -2
GRN, IVS6AS, G-A, -1
GRN, IVS7AS, A-G, -2
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) rs193026789
NM_002087.3(GRN):c.1246dup (p.Cys416fs) rs794729671
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) rs1567888461
NM_002087.3(GRN):c.146G>A (p.Trp49Ter) rs1598362746
NM_002087.3(GRN):c.232dup (p.Ser78fs) rs1567885658
NM_002087.3(GRN):c.349+1G>C rs1598363083
NM_002087.3(GRN):c.385dup (p.Ser129fs) rs1567886206
NM_002087.3(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.3(GRN):c.424dup (p.Met142fs) rs1598363490
NM_002087.3(GRN):c.462+1G>C rs794729669
NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) rs1567886445
NM_002087.3(GRN):c.560del (p.Leu187fs) rs1567886478
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.709-4_713del rs1598364296
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) rs63751035
NM_002087.3(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.3(GRN):c.776dup (p.Cys260fs) rs1567887015
NM_002087.3(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.3(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.3(GRN):c.835+1G>A rs606231221
NM_002087.3(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) rs794729670
NM_002087.3(GRN):c.907del (p.Ala303fs) rs1555611256
NM_002087.3(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_002087.3(GRN):c.93_96dup (p.Asp33fs) rs606231220
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002087.4(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006
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.3G>A (p.Met1Ile) rs63750331
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_016835.4(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) rs63750376
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) rs63751438
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) rs63751165
NM_016835.4(MAPT):c.1866+11T>C rs63751394
NM_016835.4(MAPT):c.1866+13A>G rs63750308
NM_016835.4(MAPT):c.1866+14C>T rs63750972
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1866+1G>A rs1568327531
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568
NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) rs63750092
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1959G>C (p.Gln653His) rs1598408073
NM_016835.4(MAPT):c.1960G>A (p.Val654Met) rs63750570
NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) rs63750711
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424

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