ClinVar Miner

List of variants in gene PANK2 reported as likely benign 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: 196
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HGVS dbSNP gnomAD frequency
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
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_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
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.624G>A (p.Ala208=) rs78631398 0.00006
NM_001386393.1(PANK2):c.726C>T (p.Val242=) rs375227097 0.00006
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_001386393.1(PANK2):c.905+14A>T rs745860566 0.00003
NM_001386393.1(PANK2):c.906-4A>C rs761546373 0.00003
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.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_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.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.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_153638.4(PANK2):c.48G>A (p.Pro16=) rs982359150 0.00001
NM_153638.4(PANK2):c.96C>T (p.Thr32=) rs398124549 0.00001
NM_001386393.1(PANK2):c.*63dup rs143725982
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.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.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_1083-13insCCCCCT rs1555789541
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.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.1275A>G (p.Ala425=)
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)
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.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.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.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.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.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.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.493C>T (p.Leu165=)
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)
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.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.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.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.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.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.951C>G (p.Gly317=)
NM_001386393.1(PANK2):c.951C>T (p.Gly317=)
NM_001386393.1(PANK2):c.978A>G (p.Glu326=) rs1427408420
NM_001386393.1(PANK2):c.987T>C (p.Ser329=)
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.18C>T (p.Pro6=)
NM_153638.4(PANK2):c.24C>T (p.His8=)
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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