List of variants in gene CHD7 reported as pathogenic for Kallmann syndrome

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2613+5G>A	rs202143667	0.00008
NM_017780.4(CHD7):c.164A>G (p.His55Arg)	rs121434345	0.00001
NM_017780.4(CHD7):c.2442+5G>C	rs387906271
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)	rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)	rs121434338
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	rs886040985
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)	rs1586393556
NM_017780.4(CHD7):c.519del (p.Pro174fs)	rs1809050272
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.5405-7G>A	rs398124321
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	rs1554603970
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)	rs587783450
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs)	rs1805943625
NM_017780.4(CHD7):c.8006dup (p.Pro2670fs)	rs1586462917
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)	rs886040962
NM_017780.4(CHD7):c.8546del (p.Glu2849fs)	rs2129765592

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