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

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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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