List of variants in gene combination CHD7, LOC126860403 reported by Fulgent Genetics, Fulgent Genetics

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_017780.4(CHD7):c.1666-15A>G	rs372978951	0.00035
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)	rs746633621	0.00004
NM_017780.4(CHD7):c.1677G>A (p.Ser559=)	rs568348314	0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)	rs776871277	0.00003
NM_017780.4(CHD7):c.1704G>A (p.Pro568=)	rs765715877	0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)	rs769625033	0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)	rs1373820202	0.00001
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)	rs755898600	0.00001
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)	rs1231245538
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)	rs1694045574
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)	rs1563595031
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)	rs755898600

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