List of variants studied for Spongy degeneration of central nervous system by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.*27C>T	rs151133430	0.00487
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00071
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00028
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	rs28940574	0.00015
NM_000049.4(ASPA):c.-152C>T	rs886052821	0.00009
NM_000049.4(ASPA):c.906G>A (p.Thr302=)	rs371394875	0.00009
NM_000049.4(ASPA):c.*246G>A	rs769255741	0.00005
NM_000049.4(ASPA):c.237-2A>T	rs780936696	0.00002
NM_000049.4(ASPA):c.905C>T (p.Thr302Met)	rs763869261	0.00002
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=)	rs759106494	0.00001
NM_000049.4(ASPA):c.-105T>C	rs886052822
NM_000049.4(ASPA):c.556del (p.Val186fs)	rs1567614635
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	rs12948217
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)	rs12948217

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