ClinVar Miner

List of variants in gene DIAPH1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806 0.00004
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=) rs377665243 0.00001
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=) rs1241177697 0.00001
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr) rs2099895540
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs) rs2099887774
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=)
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro) rs2154596602

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