List of variants reported as uncertain significance for Spongy degeneration of central nervous system by Counsyl

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Total variants: 16

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HGVS	dbSNP
NM_000049.3(ASPA):c.170C>T (p.Ala57Val)	rs1555538148
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr)	rs1555538151
NM_000049.3(ASPA):c.427A>G (p.Ile143Val)	rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe)	rs199565861
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr)	rs777936704
NM_000049.3(ASPA):c.432G>A (p.Lys144=)	rs754087904
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr)	rs144321760
NM_000049.3(ASPA):c.539G>T (p.Gly180Val)	rs1014551540
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu)	rs1335267315
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg)	rs377217076
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser)	rs750505963
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu)	rs1555541310
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter)	rs1555541343
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del	rs1555539888
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del	rs1555541321

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