ClinVar Miner

List of variants reported as uncertain significance for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
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)
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
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.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
NM_002087.3(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.3(GRN):c.1669C>T (p.His557Tyr)
NM_002087.3(GRN):c.1736G>A (p.Arg579His) rs373138049
NM_002087.3(GRN):c.229G>A (p.Val77Ile)
NM_002087.3(GRN):c.250T>C (p.Cys84Arg)
NM_002087.3(GRN):c.268G>A (p.Val90Met)
NM_002087.3(GRN):c.442G>A (p.Gly148Arg)
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
NM_002087.3(GRN):c.8C>G (p.Thr3Ser)
NM_002087.4(GRN):c.1179+4_1179+8del
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541
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)
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)
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)
NM_016835.4(MAPT):c.272C>T (p.Ala91Val) rs780582778
NM_016835.4(MAPT):c.284C>T (p.Thr95Met)
NM_016835.4(MAPT):c.349G>A (p.Glu117Lys)
NM_016835.4(MAPT):c.405_415del (p.Phe136fs)
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.62G>T (p.Gly21Val)
NM_016835.4(MAPT):c.783G>A (p.Ala261=) rs200385096

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