List of variants in gene DONSON reported as likely pathogenic for microcephaly, short stature, and limb abnormalities

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser)	rs1010722195	0.00005
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	rs1028163227	0.00003
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)	rs765112107	0.00002
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	rs993687029	0.00001
NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]
NM_017613.4(DONSON):c.1342del (p.Met448fs)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	rs146664036
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	rs779803447
NM_017613.4(DONSON):c.938del (p.Gly313fs)

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