List of variants in gene SORD studied for autosomal recessive disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_003104.6(SORD):c.806A>C (p.Asn269Thr)	rs930337	0.23350
NM_003104.6(SORD):c.908+11C>T	rs28495265	0.20727
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	rs145813597	0.00033
NM_003104.6(SORD):c.935C>T (p.Ala312Val)	rs201398152	0.00018
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)	rs750210485	0.00007
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)	rs745509632	0.00003
NM_003104.6(SORD):c.266-35C>T	rs2854446
NM_003104.6(SORD):c.287C>T (p.Pro96Leu)
NM_003104.6(SORD):c.306TGA[1] (p.Asp103del)
NM_003104.6(SORD):c.361G>C (p.Ala121Pro)
NM_003104.6(SORD):c.50C>T (p.Pro17Leu)
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
NM_003104.6(SORD):c.731C>T (p.Pro244Leu)
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003104.6(SORD):c.776C>T (p.Ala259Val)
NM_003104.6(SORD):c.787-3C>G
NM_003104.6(SORD):c.851T>C (p.Leu284Pro)
NM_003104.6(SORD):c.895C>T (p.Arg299Ter)	rs1267443415

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