List of variants in gene CHD5 reported as pathogenic for not provided

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_015557.3(CHD5):c.1370_1371insAG (p.Cys457Ter)
NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe)	rs1474624774
NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu)	rs2100847449
NM_015557.3(CHD5):c.3684del (p.Asn1229fs)
NM_015557.3(CHD5):c.5830C>T (p.Gln1944Ter)
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)	rs754586094

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