List of variants in gene DES reported as uncertain significance for Neurogenic scapuloperoneal syndrome, Kaeser type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.*280G>A	rs925513578	0.00024
NM_001927.4(DES):c.216C>A (p.Ser72Arg)	rs375719734	0.00008
NM_001927.4(DES):c.*114G>T	rs755277387	0.00007
NM_001927.4(DES):c.*489G>A	rs886055655	0.00006
NM_001927.4(DES):c.*695C>T	rs1452548510	0.00006
NM_001927.4(DES):c.*559G>A	rs547498920	0.00003
NM_001927.4(DES):c.-6G>A	rs774967446	0.00003
NM_001927.4(DES):c.728A>G (p.His243Arg)	rs1410266369	0.00002
NM_001927.4(DES):c.*428G>C	rs886055654	0.00001
NM_001927.4(DES):c.679C>T (p.Arg227Cys)	rs767743962	0.00001
NM_001927.4(DES):c.*295G>A	rs1954536782
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)	rs2125168730
NM_001927.4(DES):c.247T>C (p.Tyr83His)	rs1954368990
NM_001927.4(DES):c.735+11G>A	rs1559352868

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