List of variants studied for Huntington disease and related disorders by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	rs137852959	0.00024
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)	rs779746050	0.00008
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)	rs752078407	0.00004
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)	rs753376100	0.00002
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)	rs1555787646	0.00001
NM_001386393.1(PANK2):c.-21G>T	rs780551883
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)	rs137852963
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	rs137852960
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)	rs750440690
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	rs777414421
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	rs754521581
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)	rs1555788619
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)	rs760822872
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)

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