ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
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_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-12213_-73-12212del rs786204620
NM_001321336.1(SPATA22):c.-73-12213del rs1057516962
NM_001321336.1(SPATA22):c.-73-12350del rs1555538825
NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup rs1555539105
NM_001321336.1(SPATA22):c.-73-19934del rs1555539897
NM_001321336.1(SPATA22):c.-73-6793del rs767666474
NM_001321336.1(SPATA22):c.-74+14343del rs1057517260
NM_001321336.1(SPATA22):c.-74+14344del rs1057516309
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001321336.1(SPATA22):c.-74+14436del rs1555541304
NM_001321336.1(SPATA22):c.-74+14439_-74+14440del rs1057517085
NM_001321336.1(SPATA22):c.-74+14470dup rs1555541291
NM_001321336.1(SPATA22):c.-74+19004del rs1057516315
NM_001321336.1(SPATA22):c.-74+19016_-74+19019del rs1555540674
NM_001321336.1(SPATA22):c.-74+19047_-74+19048del rs1057516498

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