ClinVar Miner

List of variants in gene CHD3 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.297G>A (p.Pro99=) rs116087083 0.00160
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=) rs61753146 0.00115
NM_001005273.3(CHD3):c.3240C>T (p.Leu1080=) rs149027084 0.00031
NM_001005273.3(CHD3):c.4564A>G (p.Ser1522Gly) rs202059923 0.00026
NM_001005273.3(CHD3):c.4826G>A (p.Arg1609Gln) rs759598225 0.00019
NM_001005273.3(CHD3):c.1944C>T (p.His648=) rs368579336 0.00001
NM_001005273.3(CHD3):c.*31C>A
NM_001005273.3(CHD3):c.1317C>T (p.Tyr439=)
NM_001005273.3(CHD3):c.1619G>A (p.Arg540His)
NM_001005273.3(CHD3):c.1908C>T (p.Ile636=)
NM_001005273.3(CHD3):c.2085C>A (p.Pro695=)
NM_001005273.3(CHD3):c.2271C>T (p.Thr757=)
NM_001005273.3(CHD3):c.2344-3C>T
NM_001005273.3(CHD3):c.2344-4C>T
NM_001005273.3(CHD3):c.3051G>A (p.Ser1017=)
NM_001005273.3(CHD3):c.3876C>T (p.Val1292=)
NM_001005273.3(CHD3):c.4326G>A (p.Arg1442=)
NM_001005273.3(CHD3):c.4398T>C (p.Pro1466=)
NM_001005273.3(CHD3):c.4407C>T (p.Asp1469=)
NM_001005273.3(CHD3):c.4569C>T (p.Ala1523=)
NM_001005273.3(CHD3):c.4641C>G (p.Thr1547=)
NM_001005273.3(CHD3):c.4779G>A (p.Met1593Ile)
NM_001005273.3(CHD3):c.4827G>T (p.Arg1609=) rs2151645210
NM_001005273.3(CHD3):c.4872G>T (p.Val1624=)
NM_001005273.3(CHD3):c.5079G>A (p.Arg1693=)
NM_001005273.3(CHD3):c.509+5G>A
NM_001005273.3(CHD3):c.5377C>T (p.Leu1793=)
NM_001005273.3(CHD3):c.5503G>A (p.Glu1835Lys) rs1395649367
NM_001005273.3(CHD3):c.5577C>A (p.Ala1859=)
NM_001005273.3(CHD3):c.5590+23G>A
NM_001005273.3(CHD3):c.5631G>A (p.Ala1877=)
NM_001005273.3(CHD3):c.5796G>A (p.Gly1932=)
NM_001005273.3(CHD3):c.5835C>T (p.Ala1945=)
NM_001005273.3(CHD3):c.711C>G (p.Ser237=) rs199898244
NM_001005273.3(CHD3):c.793+4G>A

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