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

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 16

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HGVS	dbSNP
NM_000049.3(ASPA):c.*246G>A	rs769255741
NM_000049.3(ASPA):c.*27C>T	rs151133430
NM_000049.3(ASPA):c.-105T>C	rs886052822
NM_000049.3(ASPA):c.-152C>T	rs886052821
NM_000049.3(ASPA):c.212G>A (p.Arg71His)	rs104894553
NM_000049.3(ASPA):c.237-2A>T	rs780936696
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr)	rs144321760
NM_000049.3(ASPA):c.693C>T (p.Tyr231=)	rs12948217
NM_000049.3(ASPA):c.807G>A (p.Thr269=)	rs759106494
NM_000049.3(ASPA):c.905C>T (p.Thr302Met)	rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=)	rs371394875
NM_000049.4(ASPA):c.634+1G>T	rs753871454
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	rs28940574
NM_001321336.1(SPATA22):c.-73-19863del	rs1567614635

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