ClinVar Miner

List of variants in gene DIAPH1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.402+101A>G rs73794934 0.01346
NM_005219.5(DIAPH1):c.3661+69C>T rs113373216 0.01233
NM_005219.5(DIAPH1):c.1164-186T>C rs142812798 0.01209
NM_005219.5(DIAPH1):c.3575-78T>G rs145027704 0.01209
NM_005219.5(DIAPH1):c.3574+291A>G rs143691978 0.01208
NM_005219.5(DIAPH1):c.620+176C>T rs55900860 0.01200
NM_005219.5(DIAPH1):c.1641+77C>T rs75981295 0.01182
NM_005219.5(DIAPH1):c.1397-174G>A rs78658438 0.01177
NM_005219.5(DIAPH1):c.1641+241C>G rs75909137 0.01149
NM_005219.5(DIAPH1):c.685-204C>G rs75470903 0.01147
NM_005219.5(DIAPH1):c.3662-24A>G rs72790081 0.01104
NM_005219.5(DIAPH1):c.3149-1G>T rs80342520 0.01089
NM_005219.5(DIAPH1):c.3439-27G>A rs115666914 0.01024
NM_005219.5(DIAPH1):c.1281-147T>G rs112830605 0.01010
NM_005219.5(DIAPH1):c.1461+213G>A rs115307198 0.01009
NM_005219.5(DIAPH1):c.2358+143C>T rs191644283 0.00976
NM_005219.5(DIAPH1):c.3148+178T>C rs114999642 0.00915
NC_000005.10:g.141619237G>T rs544866243 0.00867
NM_005219.5(DIAPH1):c.117+181C>G rs573118981 0.00867
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005219.5(DIAPH1):c.3273+65G>A rs192765219 0.00826
NM_005219.5(DIAPH1):c.825-221A>G rs146220673 0.00820
NM_005219.5(DIAPH1):c.824+164T>C rs191766712 0.00819
NM_005219.5(DIAPH1):c.3149-79T>C rs150503048 0.00781
NM_005219.5(DIAPH1):c.3149-96G>A rs74493399 0.00575
NM_005219.5(DIAPH1):c.2358+229G>A rs189404098 0.00556
NM_005219.5(DIAPH1):c.117+238C>T rs553186477 0.00529
NM_005219.5(DIAPH1):c.2482+122G>C rs75186142 0.00529
NM_005219.5(DIAPH1):c.1641+51T>G rs75746518 0.00528
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_005219.5(DIAPH1):c.620+169A>G rs180792286 0.00406
NM_005219.5(DIAPH1):c.2474-28T>C rs143272169 0.00388
NM_005219.5(DIAPH1):c.2482+70G>C rs114161067 0.00385
NM_005219.5(DIAPH1):c.2483-57G>A rs145976094 0.00364
NM_005219.5(DIAPH1):c.3661+34G>A rs75229850 0.00261
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.117+285C>T rs188152577 0.00205
NM_005219.5(DIAPH1):c.2474-25C>T rs201245061 0.00163
NM_005219.5(DIAPH1):c.824+28C>G rs145381797 0.00158
NM_005219.5(DIAPH1):c.2483-30A>G rs375605784 0.00151
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.-21C>T rs747985248 0.00116
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145 0.00088
NM_005219.5(DIAPH1):c.620+48G>C rs192251010 0.00075
NM_005219.5(DIAPH1):c.620+44A>G rs373320373 0.00074
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_005219.5(DIAPH1):c.*5G>T rs368263785 0.00051
NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val) rs1360966087 0.00043
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_005219.5(DIAPH1):c.2676+21G>A rs181410965 0.00021
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) rs369467830 0.00014
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005219.5(DIAPH1):c.2778+27G>T rs188955528 0.00007
NM_005219.5(DIAPH1):c.-49A>C rs570498572 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005219.5(DIAPH1):c.3149-24T>G rs570454306 0.00006
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.2473+63T>A rs141733452 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977 0.00001
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=) rs765531203 0.00001
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=) rs555292453 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.118-223C>T rs879188613
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
NM_005219.5(DIAPH1):c.1397-14CTT[2] rs771642064
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.2483-87G>A rs192690040
NM_005219.5(DIAPH1):c.2581+106A>G rs74567974
NM_005219.5(DIAPH1):c.3149-25_3149-12dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-22dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-23dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732
NM_005219.5(DIAPH1):c.3274-121T>C rs148116628
NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=)
NM_005219.5(DIAPH1):c.3661+163G>T rs185759881
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.402+58dup rs372035027

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