ClinVar Miner

List of variants studied for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Guerreiro-Bras Laboratory, Van Andel Institute

Included ClinVar conditions (14):
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ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.638C>T (p.Ser213Phe) rs1254442456 0.00038
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met) rs774714066 0.00014
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu) rs200392967 0.00005
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp) rs150368544 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282 0.00001
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro) rs145145045 0.00001
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe) rs2141385401
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg) rs1452457006
NM_001097577.3(ANG):c.368G>C (p.Gly123Ala) rs535311762
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys) rs376056912
NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His) rs770460785
NM_018446.4(GLT8D1):c.393del (p.Lys131fs) rs1308367710

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