ClinVar Miner

List of variants in gene CDC73 reported as pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
NM_024529.5(CDC73):c.109A>T (p.Lys37Ter) rs886039716
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter) rs1677757408
NM_024529.5(CDC73):c.237+1G>T rs794727303
NM_024529.5(CDC73):c.238-2A>T rs1064793897
NM_024529.5(CDC73):c.240del (p.Glu81fs)
NM_024529.5(CDC73):c.291T>G (p.Tyr97Ter) rs1675671187
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs) rs1553278841
NM_024529.5(CDC73):c.3G>T (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.49del (p.Glu17fs) rs2103111657
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs) rs886041580
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) rs1131691698

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