ClinVar Miner

List of variants in gene DIAPH1 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 27
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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.2067A>C (p.Pro689=) rs876657451 0.00108
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478 0.00042
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884 0.00016
NM_005219.5(DIAPH1):c.3662-14G>A rs369935242 0.00013
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005219.5(DIAPH1):c.1397-14C>T rs201444168 0.00009
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960 0.00005
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) rs973415272 0.00004
NM_005219.5(DIAPH1):c.1164-10C>T rs777180488 0.00003
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) rs727502962 0.00002
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 0.00001
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=) rs1554208916
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) rs756608855
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=) rs777308371
NM_005219.5(DIAPH1):c.621-7T>C rs727502963

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