ClinVar Miner

List of variants reported as pathogenic for Spongy degeneration of central nervous system by Myriad Women's Health, Inc.

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Total variants: 3

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HGVS	dbSNP
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

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