ClinVar Miner

List of variants reported as uncertain significance 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: 138
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HGVS dbSNP
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_001251902.2(TNK1):c.393C>G (p.His131Gln)
NM_002087.3(GRN):c.-100A>G rs956983853
NM_002087.3(GRN):c.-173C>T rs886053004
NM_002087.3(GRN):c.-179G>C rs886053003
NM_002087.3(GRN):c.-212G>A rs886053002
NM_002087.3(GRN):c.100C>G (p.Pro34Ala) rs748147151
NM_002087.3(GRN):c.1083_1084GA[2] (p.Asp363fs) rs1567887576
NM_002087.3(GRN):c.1120_1122TCC[1] (p.Ser375del) rs754862784
NM_002087.3(GRN):c.1179+6T>C rs765761482
NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) rs200645022
NM_002087.3(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.3(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.3(GRN):c.1641C>T (p.Arg547=) rs149658268
NM_002087.3(GRN):c.1647C>T (p.Gly549=) rs745391227
NM_002087.3(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.3(GRN):c.1736G>A (p.Arg579His) rs373138049
NM_002087.3(GRN):c.229G>A (p.Val77Ile) rs148531161
NM_002087.3(GRN):c.250T>C (p.Cys84Arg) rs1598362876
NM_002087.3(GRN):c.268G>A (p.Val90Met) rs200019356
NM_002087.3(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.3(GRN):c.442G>A (p.Gly148Arg) rs375343686
NM_002087.3(GRN):c.497C>T (p.Pro166Leu) rs368705304
NM_002087.3(GRN):c.53C>T (p.Thr18Met) rs199572314
NM_002087.3(GRN):c.708+6_708+9del rs778599933
NM_002087.3(GRN):c.803C>T (p.Thr268Met) rs202006119
NM_002087.3(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.3(GRN):c.836-3C>T rs771907059
NM_002087.3(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.*12G>T
NM_002087.4(GRN):c.*246A>G
NM_002087.4(GRN):c.*273C>T
NM_002087.4(GRN):c.*30G>A
NM_002087.4(GRN):c.-22C>T
NM_002087.4(GRN):c.-8+3A>C
NM_002087.4(GRN):c.1179+4_1179+8del
NM_002087.4(GRN):c.1180-8C>A
NM_002087.4(GRN):c.1180-8C>T
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537
NM_002087.4(GRN):c.1518C>T (p.Thr506=)
NM_002087.4(GRN):c.1521C>T (p.Phe507=)
NM_002087.4(GRN):c.1548G>T (p.Val516=)
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp)
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)
NM_002087.4(GRN):c.57G>T (p.Arg19=)
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787
NM_002087.4(GRN):c.709-12G>C
NM_002087.4(GRN):c.835+14G>C
NM_002087.4(GRN):c.933+15C>T
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
NM_002397.5(MEF2C):c.-208del rs886060864
NM_007375.3(TARDBP):c.*1084A>T rs886045041
NM_007375.3(TARDBP):c.*129T>C rs886045036
NM_007375.3(TARDBP):c.*1597_*1600del rs748047297
NM_007375.3(TARDBP):c.*159A>C rs886045037
NM_007375.3(TARDBP):c.*1622A>T rs551513393
NM_007375.3(TARDBP):c.*1623T>A rs566657331
NM_007375.3(TARDBP):c.*1633del rs886045043
NM_007375.3(TARDBP):c.*1795A>G rs886045044
NM_007375.3(TARDBP):c.*2005T>C rs886045045
NM_007375.3(TARDBP):c.*2029C>T rs886045046
NM_007375.3(TARDBP):c.*2046T>G rs886045047
NM_007375.3(TARDBP):c.*214T>C rs557787340
NM_007375.3(TARDBP):c.*2154G>T rs886045048
NM_007375.3(TARDBP):c.*2252A>G rs552057039
NM_007375.3(TARDBP):c.*2334G>A rs182302907
NM_007375.3(TARDBP):c.*2360C>T rs886045049
NM_007375.3(TARDBP):c.*2538del rs886045050
NM_007375.3(TARDBP):c.*2750G>A rs779882516
NM_007375.3(TARDBP):c.*2773A>G rs187380325
NM_007375.3(TARDBP):c.*2829dup rs886045051
NM_007375.3(TARDBP):c.*505del rs886045038
NM_007375.3(TARDBP):c.*666G>A rs778834503
NM_007375.3(TARDBP):c.*842G>A rs886045039
NM_007375.3(TARDBP):c.*862G>T rs886045040
NM_007375.3(TARDBP):c.*963C>T rs751628760
NM_007375.3(TARDBP):c.-110C>T rs577981181
NM_007375.3(TARDBP):c.-117G>A rs886045031
NM_007375.3(TARDBP):c.-126G>T rs886045030
NM_007375.3(TARDBP):c.-42C>T rs886045033
NM_007375.3(TARDBP):c.-77G>A rs886045032
NM_007375.3(TARDBP):c.239-15G>A rs200066188
NM_007375.3(TARDBP):c.499A>G (p.Met167Val) rs886045035
NM_007375.3(TARDBP):c.720G>A (p.Ala240=) rs765175133
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1641A>C rs886058912
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_016835.4(MAPT):c.1405G>A (p.Ala469Thr) rs143624519
NM_016835.4(MAPT):c.1577G>A (p.Arg526His) rs115492908
NM_016835.4(MAPT):c.1606C>T (p.Pro536Ser) rs1598326219
NM_016835.4(MAPT):c.1609A>C (p.Thr537Pro) rs1598326279
NM_016835.4(MAPT):c.1666G>A (p.Ala556Thr) rs63750096
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1959G>C (p.Gln653His) rs1598408073
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869
NM_016835.4(MAPT):c.2088C>T (p.Arg696=) rs373462041
NM_016835.4(MAPT):c.271G>A (p.Ala91Thr) rs371071165
NM_016835.4(MAPT):c.272C>T (p.Ala91Val) rs780582778
NM_016835.4(MAPT):c.284C>T (p.Thr95Met) rs138293088
NM_016835.4(MAPT):c.349G>A (p.Glu117Lys)
NM_016835.4(MAPT):c.405_415del (p.Phe136fs) rs768990943
NM_016835.4(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_016835.4(MAPT):c.616G>T (p.Ala206Ser) rs1321460540
NM_016835.4(MAPT):c.623del (p.Gly208fs) rs773149360
NM_016835.4(MAPT):c.62G>T (p.Gly21Val) rs781076528
NM_016835.4(MAPT):c.664C>A (p.Arg222Ser) rs150983093
NM_016835.4(MAPT):c.783G>A (p.Ala261=) rs200385096
NM_016835.4(MAPT):c.890C>T (p.Ala297Val) rs377402921
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu) rs756981946
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu)
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) rs762890407

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