ClinVar Miner

List of variants in gene CDC73 reported as pathogenic by Invitae

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Total variants: 19
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HGVS dbSNP
NC_000001.10:g.(?_193091321)_(193091471_?)del
NC_000001.10:g.(?_193099304)_(193099373_?)del
NC_000001.10:g.(?_193205376)_(193205496_?)del
NM_024529.4(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.4(CDC73):c.1247del (p.Gly416fs)
NM_024529.4(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.4(CDC73):c.237+1G>C rs794727303
NM_024529.4(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.4(CDC73):c.358C>T (p.Arg120Ter)
NM_024529.4(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.4(CDC73):c.451_452GA[2] (p.Arg152fs) rs1060500019
NM_024529.4(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.4(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.4(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.4(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.4(CDC73):c.664C>T (p.Arg222Ter)
NM_024529.4(CDC73):c.679_680AG[6] (p.Val230fs) rs760591174
NM_024529.4(CDC73):c.718del (p.Ser240fs)

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