ClinVar Miner

List of variants studied for Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003086.4(SNAPC4):c.2428C>T (p.Arg810Ter) rs144864297 0.00002
NM_003086.4(SNAPC4):c.595G>A (p.Asp199Asn) rs1012333538 0.00002
NM_003086.4(SNAPC4):c.1157A>G (p.Gln386Arg) rs754828592 0.00001
NM_003086.4(SNAPC4):c.1325+1G>T rs1373890461 0.00001
NM_003086.4(SNAPC4):c.2527+1G>A rs1194239835 0.00001
NM_003086.4(SNAPC4):c.1321G>A (p.Asp441Asn) rs2538735580
NM_003086.4(SNAPC4):c.737+5G>T rs777017571

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