ClinVar Miner

List of variants in gene FTL reported as uncertain significance for Huntington disease and related disorders

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.-177C>T rs988614907 0.00012
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) rs543242420 0.00006
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_000146.4(FTL):c.375+4C>T rs369864128 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) rs151265703 0.00002
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-134A>T rs1463766648 0.00001
NM_000146.4(FTL):c.-190C>T rs1379884083 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.17G>A (p.Arg6His) rs1012743580 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.207G>A (p.Met69Ile) rs1131691701 0.00001
NM_000146.4(FTL):c.302T>C (p.Met101Thr) rs750964137 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.375+5G>A rs768867643 0.00001
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) rs374486686 0.00001
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) rs770946603 0.00001
NC_000019.10:g.(?_48966261)_(48966755_?)del
NC_000019.10:g.48965301dup
NC_000019.10:g.48965303C>T
NC_000019.10:g.48965305C>T
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-10C>T
NM_000146.4(FTL):c.-111C>T
NM_000146.4(FTL):c.-126C>A
NM_000146.4(FTL):c.-139C>T rs2122429898
NM_000146.4(FTL):c.-143G>A
NM_000146.4(FTL):c.-144A>T
NM_000146.4(FTL):c.-148G>C rs2038438657
NM_000146.4(FTL):c.-153G>A
NM_000146.4(FTL):c.-153G>T rs2122429855
NM_000146.4(FTL):c.-170T>C rs2122429714
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-179G>A
NM_000146.4(FTL):c.-181G>A
NM_000146.4(FTL):c.-184C>G rs955876864
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.-186C>T
NM_000146.4(FTL):c.-189G>T rs970038885
NM_000146.4(FTL):c.-193C>G rs2038437773
NM_000146.4(FTL):c.-196G>C rs2038437702
NM_000146.4(FTL):c.-24T>C
NM_000146.4(FTL):c.-51dup rs2122430255
NM_000146.4(FTL):c.-56G>T
NM_000146.4(FTL):c.-95C>A
NM_000146.4(FTL):c.102G>A (p.Leu34=)
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) rs2038445005
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) rs11553257
NM_000146.4(FTL):c.12G>C (p.Gln4His) rs753168179
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) rs930186818
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) rs930186818
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) rs2038446533
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.194G>A (p.Arg65His) rs1555797038
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) rs2122432219
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) rs770196454
NM_000146.4(FTL):c.249+3A>G rs2038447850
NM_000146.4(FTL):c.249+6T>C
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) rs773293832
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) rs762786833
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) rs2122433970
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
NM_000146.4(FTL):c.375T>C (p.His125=)
NM_000146.4(FTL):c.376C>G (p.Leu126Val) rs775308103
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) rs2122435637
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) rs768204975
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) rs1422409524

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