ClinVar Miner

List of variants reported as likely benign for Huntington disease and related disorders by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 336
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.520C>T (p.His174Tyr) rs1803578 0.00042
NM_153638.4(PANK2):c.34C>T (p.His12Tyr) rs374286033 0.00041
NM_001386393.1(PANK2):c.780A>G (p.Glu260=) rs375501114 0.00026
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_001386393.1(PANK2):c.369C>A (p.Ile123=) rs150594400 0.00008
NM_001386393.1(PANK2):c.1332+20G>A rs762399308 0.00007
NM_001386393.1(PANK2):c.198G>A (p.Gly66=) rs751025789 0.00006
NM_001386393.1(PANK2):c.726C>T (p.Val242=) rs375227097 0.00006
NM_153638.4(PANK2):c.285C>T (p.Leu95=) rs573252413 0.00005
NM_000146.4(FTL):c.87C>T (p.Tyr29=) rs779990778 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.291G>A (p.Lys97=) rs764439399 0.00004
NM_001386393.1(PANK2):c.585G>A (p.Ser195=) rs751910368 0.00004
NM_001386393.1(PANK2):c.816G>A (p.Pro272=) rs772119893 0.00004
NM_153638.4(PANK2):c.66G>T (p.Gly22=) rs144707315 0.00004
NM_000146.4(FTL):c.474G>A (p.Pro158=) rs758414077 0.00003
NM_001386393.1(PANK2):c.108G>C (p.Ser36=) rs1037083433 0.00003
NM_001386393.1(PANK2):c.39G>A (p.Arg13=) rs1327793374 0.00003
NM_001386393.1(PANK2):c.905+14A>T rs745860566 0.00003
NM_001386393.1(PANK2):c.906-4A>C rs761546373 0.00003
NM_000146.4(FTL):c.319C>T (p.Leu107=) rs751923171 0.00002
NM_001386393.1(PANK2):c.1207-11G>C rs753139032 0.00002
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=) rs776868989 0.00002
NM_001386393.1(PANK2):c.204G>C (p.Ser68=) rs767219073 0.00002
NM_001386393.1(PANK2):c.294G>A (p.Arg98=) rs1443740202 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00002
NM_153638.4(PANK2):c.114C>T (p.Thr38=) rs200506776 0.00002
NM_000146.4(FTL):c.199C>T (p.Leu67=) rs371965152 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=) rs768111750 0.00001
NM_001386393.1(PANK2):c.1083-20T>C rs767566162 0.00001
NM_001386393.1(PANK2):c.1083-4A>C rs562997544 0.00001
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=) rs776309099 0.00001
NM_001386393.1(PANK2):c.1332+10C>T rs775900554 0.00001
NM_001386393.1(PANK2):c.180G>A (p.Ala60=) rs1167325149 0.00001
NM_001386393.1(PANK2):c.183G>T (p.Ser61=) rs966862550 0.00001
NM_001386393.1(PANK2):c.207T>A (p.Ala69=) rs750266345 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.324C>T (p.Ile108=) rs756145631 0.00001
NM_001386393.1(PANK2):c.384A>G (p.Glu128=) rs1168477276 0.00001
NM_001386393.1(PANK2):c.474C>T (p.Leu158=) rs572915908 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.600C>G (p.Val200=) rs778032232 0.00001
NM_001386393.1(PANK2):c.618T>G (p.Gly206=) rs755691919 0.00001
NM_001386393.1(PANK2):c.651+9T>C rs1194885027 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_153638.4(PANK2):c.48G>A (p.Pro16=) rs982359150 0.00001
NM_153638.4(PANK2):c.96C>T (p.Thr32=) rs398124549 0.00001
NC_000019.10:g.48965306del rs748868187
NM_000146.4(FTL):c.-9C>T
NM_000146.4(FTL):c.102+14A>G rs2122431045
NM_000146.4(FTL):c.102+20C>T
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.103-4G>T
NM_000146.4(FTL):c.156C>T (p.Phe52=)
NM_000146.4(FTL):c.249+4A>G
NM_000146.4(FTL):c.249+8G>C
NM_000146.4(FTL):c.249+9T>G rs2122432498
NM_000146.4(FTL):c.250-12C>T
NM_000146.4(FTL):c.250-7T>C
NM_000146.4(FTL):c.285C>T (p.Asp95=)
NM_000146.4(FTL):c.288C>T (p.Ala96=)
NM_000146.4(FTL):c.336G>A (p.Leu112=)
NM_000146.4(FTL):c.375+15C>A
NM_000146.4(FTL):c.375+15C>T
NM_000146.4(FTL):c.375+8C>T
NM_000146.4(FTL):c.376-11T>C
NM_000146.4(FTL):c.376-15C>T
NM_000146.4(FTL):c.417G>A (p.Val139=)
NM_000146.4(FTL):c.42G>A (p.Glu14=) rs1600121247
NM_000146.4(FTL):c.463C>T (p.Leu155=)
NM_000146.4(FTL):c.48C>G (p.Ala16=)
NM_000146.4(FTL):c.501C>T (p.Phe167=)
NM_001386393.1(PANK2):c.-13A>G
NM_001386393.1(PANK2):c.-16G>A
NM_001386393.1(PANK2):c.-28C>A
NM_001386393.1(PANK2):c.-28C>G
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-31T>G
NM_001386393.1(PANK2):c.-37C>G
NM_001386393.1(PANK2):c.-40T>C rs555683860
NM_001386393.1(PANK2):c.-40T>G
NM_001386393.1(PANK2):c.-4G>C
NM_001386393.1(PANK2):c.-7T>C
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=) rs2146872723
NM_001386393.1(PANK2):c.1008G>A (p.Val336=)
NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)
NM_001386393.1(PANK2):c.102C>G (p.Val34=)
NM_001386393.1(PANK2):c.1035A>T (p.Gly345=)
NM_001386393.1(PANK2):c.1041C>T (p.Asp347=)
NM_001386393.1(PANK2):c.1057C>T (p.Leu353=)
NM_001386393.1(PANK2):c.105G>T (p.Ser35=)
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)
NM_001386393.1(PANK2):c.1074G>A (p.Val358=)
NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)
NM_001386393.1(PANK2):c.1082+11A>G
NM_001386393.1(PANK2):c.1082+12TG[4]
NM_001386393.1(PANK2):c.1082+19del
NM_001386393.1(PANK2):c.1082+20C>T
NM_001386393.1(PANK2):c.1082+9_1082+10dup
NM_001386393.1(PANK2):c.1083-10C>T rs1442070301
NM_001386393.1(PANK2):c.1083-12C>T
NM_001386393.1(PANK2):c.1083-13T>C
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT
NM_001386393.1(PANK2):c.1083-16T>G
NM_001386393.1(PANK2):c.1083-18T>C
NM_001386393.1(PANK2):c.1083-3_1083-2del rs760705943
NM_001386393.1(PANK2):c.1083-5C>T
NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)
NM_001386393.1(PANK2):c.1119T>C (p.Ala373=)
NM_001386393.1(PANK2):c.1122C>G (p.Val374=)
NM_001386393.1(PANK2):c.1140C>G (p.Ala380=)
NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)
NM_001386393.1(PANK2):c.1206+11A>C
NM_001386393.1(PANK2):c.1206+11A>G
NM_001386393.1(PANK2):c.1206+19_1206+22del
NM_001386393.1(PANK2):c.1206+9A>G
NM_001386393.1(PANK2):c.1207-16T>C
NM_001386393.1(PANK2):c.1207-17T>C rs1483932495
NM_001386393.1(PANK2):c.1207-20C>A
NM_001386393.1(PANK2):c.1207-5C>T
NM_001386393.1(PANK2):c.1207-6G>A
NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)
NM_001386393.1(PANK2):c.1257C>T (p.Ile419=)
NM_001386393.1(PANK2):c.126C>T (p.Ala42=)
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)
NM_001386393.1(PANK2):c.129G>C (p.Gly43=)
NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)
NM_001386393.1(PANK2):c.1329C>T (p.His443=)
NM_001386393.1(PANK2):c.1332+14T>G
NM_001386393.1(PANK2):c.1332+16C>G
NM_001386393.1(PANK2):c.1332+16C>T
NM_001386393.1(PANK2):c.1332+17G>A
NM_001386393.1(PANK2):c.1332+8G>C
NM_001386393.1(PANK2):c.1333-12A>G rs749532706
NM_001386393.1(PANK2):c.1333-16G>T
NM_001386393.1(PANK2):c.1333-4T>A
NM_001386393.1(PANK2):c.1333-8T>C
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)
NM_001386393.1(PANK2):c.1380G>T (p.Pro460=)
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)
NM_001386393.1(PANK2):c.145C>A (p.Arg49=)
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)
NM_001386393.1(PANK2):c.15C>G (p.Leu5=)
NM_001386393.1(PANK2):c.15C>T (p.Leu5=)
NM_001386393.1(PANK2):c.165C>T (p.Arg55=)
NM_001386393.1(PANK2):c.171G>C (p.Ala57=)
NM_001386393.1(PANK2):c.183G>A (p.Ser61=)
NM_001386393.1(PANK2):c.186G>A (p.Val62=)
NM_001386393.1(PANK2):c.186G>T (p.Val62=)
NM_001386393.1(PANK2):c.189C>T (p.Pro63=) rs71647829
NM_001386393.1(PANK2):c.192G>A (p.Ala64=)
NM_001386393.1(PANK2):c.192G>C (p.Ala64=)
NM_001386393.1(PANK2):c.192G>T (p.Ala64=)
NM_001386393.1(PANK2):c.195C>G (p.Val65=)
NM_001386393.1(PANK2):c.195C>T (p.Val65=)
NM_001386393.1(PANK2):c.198G>T (p.Gly66=)
NM_001386393.1(PANK2):c.201C>A (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.201C>T (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.204G>T (p.Ser68=)
NM_001386393.1(PANK2):c.216G>A (p.Thr72=)
NM_001386393.1(PANK2):c.234C>G (p.Gly78=)
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)
NM_001386393.1(PANK2):c.243C>T (p.Ser81=)
NM_001386393.1(PANK2):c.246C>T (p.Gly82=)
NM_001386393.1(PANK2):c.252C>A (p.Thr84=)
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.261C>T (p.Ser87=)
NM_001386393.1(PANK2):c.270C>T (p.Arg90=)
NM_001386393.1(PANK2):c.273C>G (p.Val91=)
NM_001386393.1(PANK2):c.273C>T (p.Val91=)
NM_001386393.1(PANK2):c.279C>T (p.Ser93=)
NM_001386393.1(PANK2):c.27A>G (p.Arg9=)
NM_001386393.1(PANK2):c.27A>T (p.Arg9=)
NM_001386393.1(PANK2):c.280C>T (p.Leu94=)
NM_001386393.1(PANK2):c.298+11C>T
NM_001386393.1(PANK2):c.298+11del
NM_001386393.1(PANK2):c.298+12G>C
NM_001386393.1(PANK2):c.298+12G>T
NM_001386393.1(PANK2):c.298+13T>A
NM_001386393.1(PANK2):c.298+18C>T
NM_001386393.1(PANK2):c.298+20C>T
NM_001386393.1(PANK2):c.298+7G>A
NM_001386393.1(PANK2):c.298+9T>C
NM_001386393.1(PANK2):c.299-12T>C
NM_001386393.1(PANK2):c.299-12T>G
NM_001386393.1(PANK2):c.299-6A>G
NM_001386393.1(PANK2):c.299-9C>G rs2090412291
NM_001386393.1(PANK2):c.30G>A (p.Leu10=)
NM_001386393.1(PANK2):c.327T>G (p.Gly109=)
NM_001386393.1(PANK2):c.336G>A (p.Leu112=)
NM_001386393.1(PANK2):c.336G>T (p.Leu112=)
NM_001386393.1(PANK2):c.339C>T (p.Val113=)
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)
NM_001386393.1(PANK2):c.345G>A (p.Leu115=)
NM_001386393.1(PANK2):c.348A>G (p.Val116=)
NM_001386393.1(PANK2):c.348A>T (p.Val116=)
NM_001386393.1(PANK2):c.34C>T (p.Leu12=)
NM_001386393.1(PANK2):c.369C>T (p.Ile123=)
NM_001386393.1(PANK2):c.381A>G (p.Glu127=)
NM_001386393.1(PANK2):c.387G>A (p.Glu129=)
NM_001386393.1(PANK2):c.39G>T (p.Arg13=)
NM_001386393.1(PANK2):c.441T>G (p.Ala147=)
NM_001386393.1(PANK2):c.444T>C (p.Tyr148=)
NM_001386393.1(PANK2):c.450T>C (p.Ser150=)
NM_001386393.1(PANK2):c.45A>C (p.Gly15=)
NM_001386393.1(PANK2):c.465C>T (p.Asp155=)
NM_001386393.1(PANK2):c.477G>A (p.Glu159=)
NM_001386393.1(PANK2):c.478C>T (p.Leu160=)
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)
NM_001386393.1(PANK2):c.493C>T (p.Leu165=)
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe) rs772205776
NM_001386393.1(PANK2):c.57C>T (p.Leu19=)
NM_001386393.1(PANK2):c.597T>G (p.Thr199=)
NM_001386393.1(PANK2):c.609C>A (p.Ala203=)
NM_001386393.1(PANK2):c.609C>T (p.Ala203=)
NM_001386393.1(PANK2):c.60C>T (p.Gly20=)
NM_001386393.1(PANK2):c.618T>C (p.Gly206=)
NM_001386393.1(PANK2):c.624G>T (p.Ala208=) rs78631398
NM_001386393.1(PANK2):c.636G>A (p.Glu212=)
NM_001386393.1(PANK2):c.63G>A (p.Ala21=)
NM_001386393.1(PANK2):c.63G>C (p.Ala21=)
NM_001386393.1(PANK2):c.651+16C>G
NM_001386393.1(PANK2):c.651+19A>G
NM_001386393.1(PANK2):c.651+7A>G
NM_001386393.1(PANK2):c.652-11T>C
NM_001386393.1(PANK2):c.652-12A>G
NM_001386393.1(PANK2):c.652-14T>C
NM_001386393.1(PANK2):c.652-15C>T
NM_001386393.1(PANK2):c.652-16T>A
NM_001386393.1(PANK2):c.652-18A>G
NM_001386393.1(PANK2):c.652-19C>T
NM_001386393.1(PANK2):c.652-7A>G
NM_001386393.1(PANK2):c.652-9_652-5del
NM_001386393.1(PANK2):c.675A>G (p.Lys225=)
NM_001386393.1(PANK2):c.676C>T (p.Leu226=)
NM_001386393.1(PANK2):c.687A>G (p.Leu229=)
NM_001386393.1(PANK2):c.696G>A (p.Leu232=)
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)
NM_001386393.1(PANK2):c.6G>C (p.Gly2=)
NM_001386393.1(PANK2):c.714C>T (p.Tyr238=)
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001386393.1(PANK2):c.723A>G (p.Ser241=)
NM_001386393.1(PANK2):c.738A>G (p.Gly246=)
NM_001386393.1(PANK2):c.747G>A (p.Gln249=)
NM_001386393.1(PANK2):c.750C>T (p.Cys250=)
NM_001386393.1(PANK2):c.759T>C (p.Phe253=)
NM_001386393.1(PANK2):c.774T>C (p.Asp258=)
NM_001386393.1(PANK2):c.783G>A (p.Lys261=)
NM_001386393.1(PANK2):c.813T>C (p.Asn271=)
NM_001386393.1(PANK2):c.819T>C (p.Tyr273=)
NM_001386393.1(PANK2):c.81C>T (p.Gly27=)
NM_001386393.1(PANK2):c.843C>T (p.Gly281=)
NM_001386393.1(PANK2):c.849G>A (p.Gly283=)
NM_001386393.1(PANK2):c.858C>T (p.Ile286=)
NM_001386393.1(PANK2):c.873C>A (p.Ser291=)
NM_001386393.1(PANK2):c.873C>G (p.Ser291=)
NM_001386393.1(PANK2):c.876A>G (p.Lys292=)
NM_001386393.1(PANK2):c.87T>G (p.Ala29=)
NM_001386393.1(PANK2):c.891G>T (p.Arg297=)
NM_001386393.1(PANK2):c.905+10A>G
NM_001386393.1(PANK2):c.905+10A>T
NM_001386393.1(PANK2):c.905+16A>C
NM_001386393.1(PANK2):c.905+18C>T rs2146867647
NM_001386393.1(PANK2):c.906-12T>A
NM_001386393.1(PANK2):c.906-12T>G
NM_001386393.1(PANK2):c.906-13T>G
NM_001386393.1(PANK2):c.906-18_906-15del
NM_001386393.1(PANK2):c.906-19T>A
NM_001386393.1(PANK2):c.906-21_906-19del
NM_001386393.1(PANK2):c.906-8A>C
NM_001386393.1(PANK2):c.90C>A (p.Ser30=)
NM_001386393.1(PANK2):c.93C>T (p.Ala31=)
NM_001386393.1(PANK2):c.951C>G (p.Gly317=)
NM_001386393.1(PANK2):c.951C>T (p.Gly317=)
NM_001386393.1(PANK2):c.96C>T (p.Thr32=)
NM_001386393.1(PANK2):c.978A>G (p.Glu326=) rs1427408420
NM_001386393.1(PANK2):c.987T>C (p.Ser329=)
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)
NM_001386393.1(PANK2):c.9C>T (p.Gly3=)
NM_153638.4(PANK2):c.105C>T (p.Pro35=)
NM_153638.4(PANK2):c.108C>T (p.Ser36=)
NM_153638.4(PANK2):c.114C>A (p.Thr38=)
NM_153638.4(PANK2):c.117C>A (p.Thr39=)
NM_153638.4(PANK2):c.120C>T (p.Leu40=)
NM_153638.4(PANK2):c.123C>T (p.Ser41=)
NM_153638.4(PANK2):c.126G>T (p.Pro42=)
NM_153638.4(PANK2):c.129C>T (p.Pro43=)
NM_153638.4(PANK2):c.12C>G (p.Leu4=)
NM_153638.4(PANK2):c.141C>T (p.Ser47=)
NM_153638.4(PANK2):c.148T>C (p.Leu50=)
NM_153638.4(PANK2):c.153C>T (p.Asp51=)
NM_153638.4(PANK2):c.159C>T (p.Gly53=) rs1485088384
NM_153638.4(PANK2):c.189G>A (p.Pro63=)
NM_153638.4(PANK2):c.18C>T (p.Pro6=)
NM_153638.4(PANK2):c.213G>C (p.Pro71=)
NM_153638.4(PANK2):c.219A>G (p.Pro73=)
NM_153638.4(PANK2):c.222C>A (p.Ala74=)
NM_153638.4(PANK2):c.222C>G (p.Ala74=)
NM_153638.4(PANK2):c.243G>T (p.Ala81=)
NM_153638.4(PANK2):c.24C>T (p.His8=)
NM_153638.4(PANK2):c.252C>T (p.Arg84=)
NM_153638.4(PANK2):c.258A>C (p.Gly86=)
NM_153638.4(PANK2):c.264C>T (p.Gly88=)
NM_153638.4(PANK2):c.273G>A (p.Pro91=)
NM_153638.4(PANK2):c.273G>C (p.Pro91=)
NM_153638.4(PANK2):c.274A>C (p.Arg92=)
NM_153638.4(PANK2):c.30C>T (p.Arg10=)
NM_153638.4(PANK2):c.36T>C (p.His12=)
NM_153638.4(PANK2):c.42G>A (p.Ala14=)
NM_153638.4(PANK2):c.45G>A (p.Ala15=)
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_153638.4(PANK2):c.66G>A (p.Gly22=)
NM_153638.4(PANK2):c.66G>C (p.Gly22=)
NM_153638.4(PANK2):c.69A>G (p.Leu23=)
NM_153638.4(PANK2):c.7A>C (p.Arg3=)
NM_153638.4(PANK2):c.81C>G (p.Leu27=)
NM_153638.4(PANK2):c.84C>T (p.Phe28=)
NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)
NM_153638.4(PANK2):c.99G>A (p.Arg33=)
NM_153638.4(PANK2):c.9G>A (p.Arg3=)

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