List of variants in gene CHD7 reported as pathogenic by Mendelics

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2957+5G>A	rs1586390236
NM_017780.4(CHD7):c.5050+1G>C	rs1554602466
NM_017780.4(CHD7):c.5051-1G>A	rs1586432203
NM_017780.4(CHD7):c.5405-7G>A	rs398124321
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer)	rs2150808082
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs)	rs2150808678
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs)	rs1586444410
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter)	rs1586452965
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)	rs748504264

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