ClinVar Miner

List of variants in gene CDC73 reported as pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_024529.4(CDC73):c.109A>T (p.Lys37Ter) rs886039716
NM_024529.4(CDC73):c.131+1G>A rs587776558
NM_024529.4(CDC73):c.226C>T (p.Arg76Ter) rs886041158
NM_024529.4(CDC73):c.238-2A>T rs1064793897
NM_024529.4(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.4(CDC73):c.375_376delinsT (p.Lys125fs) rs1553278841
NM_024529.4(CDC73):c.3G>T (p.Met1Ile) rs28942098
NM_024529.4(CDC73):c.423+1G>A rs1131691732
NM_024529.4(CDC73):c.679_680AG[6] (p.Val230fs) rs760591174
NM_024529.4(CDC73):c.723_725delinsC (p.Gly242fs) rs886041580
NM_024529.4(CDC73):c.85G>T (p.Glu29Ter) rs1131691698

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