ClinVar Miner

List of variants in gene DIAPH1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.-22G>T rs530831319 0.00128
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145 0.00088
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_005219.5(DIAPH1):c.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=) rs185113837 0.00010
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.3574+8G>C rs372735919 0.00005
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=) rs13175631 0.00003
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=) rs776296177 0.00002
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005219.5(DIAPH1):c.684+6A>G rs1038136298 0.00001
NM_005219.5(DIAPH1):c.-31C>G
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1917C>T (p.Ile639=)
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=) rs371366611
NM_005219.5(DIAPH1):c.3149-25_3149-12dup rs79558427
NM_005219.5(DIAPH1):c.402+12del rs555848272

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