ClinVar Miner

List of variants reported as likely pathogenic for Spongy degeneration of central nervous system by Invitae

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Total variants: 4

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HGVS	dbSNP
NM_000049.3(ASPA):c.432G>A (p.Lys144=)	rs754087904
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000049.4(ASPA):c.236+2T>C
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)

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