ClinVar Miner

List of variants studied for Huntington disease and related disorders by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
GRCh37/hg19 20p13(chr20:3888573-3888925)
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275

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