List of variants in gene CHD7 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)	rs117506164	0.00030
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)	rs794727150	0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)	rs1329129099	0.00001
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)	rs747082615	0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)	rs374004489	0.00001
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)	rs868107005
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	rs587783429
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter)	rs1554581757
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)	rs367557471
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr)	rs1809030198
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp)	rs1181372363
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)	rs1804800490
NM_017780.4(CHD7):c.6103+9A>G	rs1805508072
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met)	rs749435288
NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)	rs1057518891
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser)	rs757725468

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