ClinVar Miner

List of variants in gene CDC73 reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP
CDC73, 1-BP INS, 373A
CDC73, 2-BP DEL
CDC73, 4-BP DEL, 685AGAG
CDC73, 41-BP DUP/INS
NM_024529.4(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.4(CDC73):c.131+1G>A rs587776558
NM_024529.4(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.4(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.4(CDC73):c.238-1G>A rs587776559
NM_024529.4(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.4(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.4(CDC73):c.54del (p.Ile18fs) rs587776557
NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.4(CDC73):c.85del (p.Glu29fs) rs587776560

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