ClinVar Miner

List of variants in gene CDKN1B reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_004064.5(CDKN1B):c.165G>A (p.Ala55=) rs16908375 0.00068
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004064.5(CDKN1B):c.234G>A (p.Glu78=) rs751794433 0.00007
NM_004064.5(CDKN1B):c.149G>A (p.Arg50Lys) rs771913043 0.00001
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.219G>T (p.Lys73Asn) rs573353679
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004064.5(CDKN1B):c.475+30_475+31del rs770608437

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