List of variants in gene XRCC4 reported as pathogenic for short stature, microcephaly, and endocrine dysfunction

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)	rs779773463	0.00004
NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter)	rs768825050	0.00003
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	rs587779351	0.00002
NM_003401.5(XRCC4):c.482G>A (p.Arg161Gln)	rs797045017	0.00001
NM_003401.5(XRCC4):c.-10-1G>T	rs869320678
NM_003401.5(XRCC4):c.127T>A (p.Trp43Arg)	rs587779351
NM_003401.5(XRCC4):c.246T>G (p.Asp82Glu)	rs879255258
NM_003401.5(XRCC4):c.25del (p.His9fs)	rs869320677
NM_003401.5(XRCC4):c.760del (p.Asp254fs)	rs879255259
NM_003401.5(XRCC4):c.823C>T (p.Arg275Ter)	rs797045016

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