ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
ASPA, 1-BP DEL, 32T
ASPA, 4-BP DEL, 876AGAA
ASPA, EX4DEL
NC_000017.11:g.(?_3489225)_(3499098_?)del
NC_000017.11:g.(?_3489235)_(3729555_?)del
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.3(ASPA):c.692A>G (p.Tyr231Cys) rs104894550
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.744+1G>A
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.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-6832T>C rs104894551
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790

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