ClinVar Miner

List of variants in gene CEP57, LOC130006618 studied for Mosaic variegated aneuploidy syndrome 2

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr) rs150749300 0.00016
NM_014679.5(CEP57):c.37C>T (p.His13Tyr) rs770949915 0.00003
NM_014679.5(CEP57):c.23C>T (p.Ala8Val) rs751018904 0.00002
NM_014679.5(CEP57):c.26C>T (p.Ala9Val) rs1171650821 0.00001
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) rs755854165 0.00001
NM_014679.5(CEP57):c.36T>A (p.Ser12=) rs749098441 0.00001
NM_014679.5(CEP57):c.3G>A (p.Met1Ile) rs1017500720 0.00001
NM_014679.5(CEP57):c.45+5G>A rs1347618392 0.00001
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly) rs563708574
NM_014679.5(CEP57):c.15T>G (p.Ser5=) rs1860990343
NM_014679.5(CEP57):c.18C>G (p.Val6=)
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)
NM_014679.5(CEP57):c.20_21del (p.Ser7fs)
NM_014679.5(CEP57):c.21T>C (p.Ser7=)
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe) rs752283181
NM_014679.5(CEP57):c.32G>T (p.Gly11Val) rs2135220118
NM_014679.5(CEP57):c.33T>G (p.Gly11=)
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)
NM_014679.5(CEP57):c.39C>G (p.His13Gln) rs531068389
NM_014679.5(CEP57):c.42G>A (p.Leu14=)
NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG
NM_014679.5(CEP57):c.45+16C>T rs374203661
NM_014679.5(CEP57):c.45+17G>A
NM_014679.5(CEP57):c.45+17G>C
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr) rs878854985
NM_014679.5(CEP57):c.8C>T (p.Ala3Val) rs1351785176

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