ClinVar Miner

List of variants reported as likely pathogenic for Huntington disease and related disorders by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) rs746484727 0.00001
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-166T>C rs2122429764
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) rs1568575271
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
NM_001386393.1(PANK2):c.1082+1G>C rs1600548506
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) rs2090674561
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
NM_001386393.1(PANK2):c.299-1G>A
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)

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