List of variants in gene combination EDAR, RANBP2 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	rs3827760	0.05968
NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	rs121908454	0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	rs121908451	0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	rs121908450	0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	rs121908455	0.00001
NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter)	rs121908456
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	rs121908452
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453
NM_022336.4(EDAR):c.51+1G>A	rs797044435
NM_022336.4(EDAR):c.52-25_52-8del	rs1558814967
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022336.4(EDAR):c.803+1G>A	rs797044437

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