List of variants in gene SORD reported as pathogenic for neuronopathy, distal hereditary motor, autosomal recessive 8

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	rs145813597	0.00033
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)	rs745509632	0.00003
NM_003104.6(SORD):c.731C>T (p.Pro244Leu)
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003104.6(SORD):c.776C>T (p.Ala259Val)
NM_003104.6(SORD):c.851T>C (p.Leu284Pro)
NM_003104.6(SORD):c.895C>T (p.Arg299Ter)	rs1267443415

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