ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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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.338T>C (p.Leu113Pro) rs63751399
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.3(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.3(GRN):c.835+1G>A rs606231221
NM_002087.3(GRN):c.93_96dup (p.Asp33fs) rs606231220
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294
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.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.3G>A (p.Met1Ile) rs63750331
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.1901A>T (p.Lys634Met) rs63750092
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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