List of variants in gene NSUN2 reported as pathogenic for autosomal recessive disease

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)	rs587776908	0.00001
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)	rs1579368865
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)	rs387907191
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)	rs1377452635
NM_017755.6(NSUN2):c.538-11T>G	rs2126499522
NM_017755.6(NSUN2):c.538-1G>C	rs1560982564
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)	rs387907190
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)
NM_017755.6(NSUN2):c.97-1G>C

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