ClinVar Miner

List of variants reported as uncertain significance for CAMOS syndrome

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) rs150829393 0.00010
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466

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