List of variants in gene CHD7 reported by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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.5404+5G>A	rs1255859560	0.00001
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)	rs797045465
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer)	rs1586390136
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)	rs1586393556
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)	rs1804159058
NM_017780.4(CHD7):c.4185+1G>A	rs1586418093
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	rs886040991
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)	rs587783454
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	rs121434341
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs)	rs1586453267
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)	rs1563669432
NM_017780.4(CHD7):c.8049del (p.Asp2684fs)	rs1586463029

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