List of variants studied for Chorea-acanthocytosis by Revvity Omics, Revvity

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	rs149694033	0.00397
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)	rs200107412	0.00016
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)	rs371138709	0.00013
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)	rs200755494	0.00008
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	rs1055609567	0.00001
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)	rs2131030007
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)	rs781242821
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)	rs1485186943
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.7419+1G>A	rs763654348
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)	rs1085307750

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