ClinVar Miner

List of variants in gene CHRNG reported by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726

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