List of variants in gene CHD7 reported as likely 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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe)	rs886039881
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)	rs768184220
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)	rs1064793083
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn)	rs1131692039
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)	rs1809000474
NM_017780.4(CHD7):c.8094del (p.Met2699fs)

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