ClinVar Miner

List of variants in gene DIAPH3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.701T>C (p.Ile234Thr) rs200839105 0.00041
NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His) rs200189161 0.00035
NM_001042517.2(DIAPH3):c.3352C>T (p.Arg1118Cys) rs76626460 0.00031
NM_001042517.2(DIAPH3):c.1808G>A (p.Arg603Gln) rs200231889 0.00028
NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val) rs199814282 0.00022
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala) rs746390263 0.00019
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) rs200771789 0.00019
NM_001042517.2(DIAPH3):c.3080G>A (p.Arg1027His) rs142015799 0.00017
NM_001042517.2(DIAPH3):c.1499C>T (p.Ala500Val) rs375508200 0.00016
NM_001042517.2(DIAPH3):c.388A>G (p.Met130Val) rs200174324 0.00016
NM_001042517.2(DIAPH3):c.686T>C (p.Leu229Pro) rs201688909 0.00013
NM_001042517.2(DIAPH3):c.1481-7A>G rs534979056 0.00011
NM_001042517.2(DIAPH3):c.2750C>T (p.Thr917Met) rs372502709 0.00011
NM_001042517.2(DIAPH3):c.3124C>T (p.Arg1042Cys) rs760815388 0.00010
NM_001042517.2(DIAPH3):c.829G>A (p.Val277Met) rs200982440 0.00009
NM_001042517.2(DIAPH3):c.1583C>G (p.Ala528Gly) rs777895599 0.00008
NM_001042517.2(DIAPH3):c.2245T>A (p.Leu749Met) rs778021540 0.00007
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001042517.2(DIAPH3):c.2945T>C (p.Ile982Thr) rs754642174 0.00006
NM_001042517.2(DIAPH3):c.1925C>G (p.Pro642Arg) rs369041383 0.00005
NM_001042517.2(DIAPH3):c.1100G>A (p.Arg367His) rs770872230 0.00004
NM_001042517.2(DIAPH3):c.2726A>G (p.Lys909Arg) rs752800540 0.00004
NM_001042517.2(DIAPH3):c.2890T>C (p.Tyr964His) rs368173151 0.00004
NM_001042517.2(DIAPH3):c.2914G>A (p.Glu972Lys) rs781747042 0.00004
NM_001042517.2(DIAPH3):c.3082G>A (p.Val1028Ile) rs541616926 0.00004
NM_001042517.2(DIAPH3):c.940G>A (p.Ala314Thr) rs200055625 0.00004
NM_001042517.2(DIAPH3):c.2106G>T (p.Lys702Asn) rs1030699025 0.00003
NM_001042517.2(DIAPH3):c.2201A>C (p.Tyr734Ser) rs749502845 0.00003
NM_001042517.2(DIAPH3):c.3571C>T (p.Arg1191Ter) rs546723182 0.00003
NM_001042517.2(DIAPH3):c.1561A>G (p.Thr521Ala) rs775151037 0.00002
NM_001042517.2(DIAPH3):c.92G>A (p.Arg31Gln) rs764945684 0.00002
NM_001042517.2(DIAPH3):c.133C>A (p.Pro45Thr) rs749626918 0.00001
NM_001042517.2(DIAPH3):c.1445G>A (p.Arg482Gln) rs762394580 0.00001
NM_001042517.2(DIAPH3):c.1682C>G (p.Pro561Arg) rs752119644 0.00001
NM_001042517.2(DIAPH3):c.1856T>C (p.Leu619Pro) rs1430861215 0.00001
NM_001042517.2(DIAPH3):c.2608-3T>C rs201176225 0.00001
NM_001042517.2(DIAPH3):c.2667A>G (p.Ile889Met) rs1413001450 0.00001
NM_001042517.2(DIAPH3):c.31C>T (p.Pro11Ser) rs1002183897 0.00001
NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp) rs1156923369 0.00001
NM_001042517.2(DIAPH3):c.3472T>C (p.Cys1158Arg) rs767517331 0.00001
NM_001042517.2(DIAPH3):c.583T>A (p.Cys195Ser) rs756116902 0.00001
NM_001042517.2(DIAPH3):c.795T>G (p.Ser265Arg) rs1489183078 0.00001
GRCh37/hg19 13q21.2(chr13:59668842-60305252)x3
GRCh37/hg19 13q21.2(chr13:59674028-60691612)x3
GRCh37/hg19 13q21.2(chr13:60170830-60386264)x3
GRCh37/hg19 13q21.2(chr13:60374705-60583008)x1
GRCh37/hg19 13q21.2(chr13:60420105-60594349)x1
GRCh37/hg19 13q21.2(chr13:60450342-60661812)x1
GRCh37/hg19 13q21.2(chr13:60467505-60632648)x3
GRCh37/hg19 13q21.2(chr13:60530375-60730636)x1
GRCh37/hg19 13q21.2(chr13:60592258-60680722)x1
GRCh37/hg19 13q21.2(chr13:60713376-60921593)x3
NC_000013.10:g.(?_60240718)_(60738073_?)del
NC_000013.10:g.(?_60240718)_(60738073_?)dup
NC_000013.10:g.(?_60565272)_(60566737_?)del
NC_000013.11:g.60163938C>T rs2138511736
NC_000013.11:g.60163939G>A rs2138511749
NM_001042517.2(DIAPH3):c.1006C>A (p.Gln336Lys)
NM_001042517.2(DIAPH3):c.1019C>T (p.Ala340Val)
NM_001042517.2(DIAPH3):c.1066G>C (p.Asp356His) rs1320429146
NM_001042517.2(DIAPH3):c.109C>T (p.Arg37Cys)
NM_001042517.2(DIAPH3):c.1124C>T (p.Pro375Leu)
NM_001042517.2(DIAPH3):c.1147G>A (p.Asp383Asn)
NM_001042517.2(DIAPH3):c.1157A>G (p.Asp386Gly)
NM_001042517.2(DIAPH3):c.1185T>G (p.His395Gln)
NM_001042517.2(DIAPH3):c.1191A>T (p.Glu397Asp)
NM_001042517.2(DIAPH3):c.1205A>C (p.Glu402Ala)
NM_001042517.2(DIAPH3):c.1217G>A (p.Arg406His)
NM_001042517.2(DIAPH3):c.1267A>T (p.Met423Leu)
NM_001042517.2(DIAPH3):c.1269G>A (p.Met423Ile)
NM_001042517.2(DIAPH3):c.1295G>T (p.Arg432Ile)
NM_001042517.2(DIAPH3):c.1297G>A (p.Ala433Thr)
NM_001042517.2(DIAPH3):c.1311_1315del (p.Ile438fs)
NM_001042517.2(DIAPH3):c.1318A>G (p.Ile440Val)
NM_001042517.2(DIAPH3):c.131C>G (p.Pro44Arg)
NM_001042517.2(DIAPH3):c.1343G>A (p.Arg448Gln) rs145827856
NM_001042517.2(DIAPH3):c.1343G>C (p.Arg448Pro) rs145827856
NM_001042517.2(DIAPH3):c.1362-19C>G
NM_001042517.2(DIAPH3):c.1366C>G (p.Gln456Glu)
NM_001042517.2(DIAPH3):c.1410G>T (p.Leu470Phe) rs745499897
NM_001042517.2(DIAPH3):c.1411C>T (p.His471Tyr)
NM_001042517.2(DIAPH3):c.1425G>A (p.Met475Ile)
NM_001042517.2(DIAPH3):c.1456G>T (p.Asp486Tyr) rs770509780
NM_001042517.2(DIAPH3):c.1463A>G (p.Asp488Gly)
NM_001042517.2(DIAPH3):c.1465_1466del (p.Leu489fs)
NM_001042517.2(DIAPH3):c.1480+1G>T rs2051187365
NM_001042517.2(DIAPH3):c.1498G>A (p.Ala500Thr)
NM_001042517.2(DIAPH3):c.1545A>C (p.Lys515Asn) rs2140684263
NM_001042517.2(DIAPH3):c.1566C>G (p.Asp522Glu)
NM_001042517.2(DIAPH3):c.1568A>T (p.His523Leu)
NM_001042517.2(DIAPH3):c.156G>T (p.Glu52Asp) rs202198529
NM_001042517.2(DIAPH3):c.1657G>A (p.Ala553Thr)
NM_001042517.2(DIAPH3):c.1691C>A (p.Pro564His)
NM_001042517.2(DIAPH3):c.170G>A (p.Arg57His)
NM_001042517.2(DIAPH3):c.170G>T (p.Arg57Leu)
NM_001042517.2(DIAPH3):c.1825C>T (p.Pro609Ser)
NM_001042517.2(DIAPH3):c.1840C>T (p.Pro614Ser)
NM_001042517.2(DIAPH3):c.1906C>T (p.Pro636Ser)
NM_001042517.2(DIAPH3):c.1969C>T (p.His657Tyr)
NM_001042517.2(DIAPH3):c.199C>G (p.Leu67Val) rs373421558
NM_001042517.2(DIAPH3):c.2029G>C (p.Asp677His)
NM_001042517.2(DIAPH3):c.203C>T (p.Thr68Met)
NM_001042517.2(DIAPH3):c.2054C>T (p.Thr685Ile)
NM_001042517.2(DIAPH3):c.2096T>C (p.Ile699Thr)
NM_001042517.2(DIAPH3):c.2111C>T (p.Ser704Leu) rs762124184
NM_001042517.2(DIAPH3):c.2126T>C (p.Ile709Thr) rs2047679230
NM_001042517.2(DIAPH3):c.219_222del (p.Lys74fs) rs767024661
NM_001042517.2(DIAPH3):c.2240C>T (p.Thr747Ile)
NM_001042517.2(DIAPH3):c.2241_2243del (p.Arg748del)
NM_001042517.2(DIAPH3):c.2257A>G (p.Met753Val)
NM_001042517.2(DIAPH3):c.2260A>T (p.Ile754Phe)
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001042517.2(DIAPH3):c.2271A>C (p.Leu757Phe) rs2140238192
NM_001042517.2(DIAPH3):c.2289T>A (p.Asp763Glu)
NM_001042517.2(DIAPH3):c.2324G>C (p.Ser775Thr) rs1344736987
NM_001042517.2(DIAPH3):c.2359G>T (p.Val787Leu)
NM_001042517.2(DIAPH3):c.2387T>C (p.Leu796Pro)
NM_001042517.2(DIAPH3):c.2401A>C (p.Ser801Arg)
NM_001042517.2(DIAPH3):c.2452C>T (p.Pro818Ser)
NM_001042517.2(DIAPH3):c.2474C>T (p.Thr825Ile)
NM_001042517.2(DIAPH3):c.2480G>T (p.Cys827Phe) rs2044848531
NM_001042517.2(DIAPH3):c.2494A>T (p.Lys832Ter)
NM_001042517.2(DIAPH3):c.2508_2509dup (p.Ser837fs) rs761037817
NM_001042517.2(DIAPH3):c.2546del (p.Tyr849fs)
NM_001042517.2(DIAPH3):c.2563C>T (p.Arg855Trp)
NM_001042517.2(DIAPH3):c.2629G>T (p.Asp877Tyr)
NM_001042517.2(DIAPH3):c.2678A>G (p.Lys893Arg) rs2043582387
NM_001042517.2(DIAPH3):c.2737+94C>T rs867038222
NM_001042517.2(DIAPH3):c.2750C>G (p.Thr917Arg) rs372502709
NM_001042517.2(DIAPH3):c.2777G>C (p.Gly926Ala)
NM_001042517.2(DIAPH3):c.2803G>A (p.Glu935Lys)
NM_001042517.2(DIAPH3):c.2818C>T (p.Pro940Ser)
NM_001042517.2(DIAPH3):c.2872A>T (p.Ile958Phe)
NM_001042517.2(DIAPH3):c.2875A>G (p.Ser959Gly)
NM_001042517.2(DIAPH3):c.2891A>G (p.Tyr964Cys)
NM_001042517.2(DIAPH3):c.2920A>G (p.Met974Val) rs2139723667
NM_001042517.2(DIAPH3):c.2923G>T (p.Glu975Ter)
NM_001042517.2(DIAPH3):c.3027+1G>T
NM_001042517.2(DIAPH3):c.3027+4T>C
NM_001042517.2(DIAPH3):c.3028C>A (p.Gln1010Lys)
NM_001042517.2(DIAPH3):c.3050A>G (p.Lys1017Arg)
NM_001042517.2(DIAPH3):c.3055dup (p.Arg1019fs) rs753024929
NM_001042517.2(DIAPH3):c.3058G>A (p.Glu1020Lys)
NM_001042517.2(DIAPH3):c.3068A>G (p.Glu1023Gly)
NM_001042517.2(DIAPH3):c.3119T>C (p.Leu1040Pro)
NM_001042517.2(DIAPH3):c.3121G>A (p.Glu1041Lys)
NM_001042517.2(DIAPH3):c.3130C>G (p.Gln1044Glu)
NM_001042517.2(DIAPH3):c.3142C>G (p.Arg1048Gly) rs200684775
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
NM_001042517.2(DIAPH3):c.3143G>A (p.Arg1048His)
NM_001042517.2(DIAPH3):c.3163+1G>A
NM_001042517.2(DIAPH3):c.3167G>C (p.Gly1056Ala) rs1245069375
NM_001042517.2(DIAPH3):c.3208del (p.Gln1070fs)
NM_001042517.2(DIAPH3):c.3248C>T (p.Pro1083Leu)
NM_001042517.2(DIAPH3):c.3260-1G>A rs1361545813
NM_001042517.2(DIAPH3):c.3266G>A (p.Arg1089Gln) rs759456145
NM_001042517.2(DIAPH3):c.3266G>C (p.Arg1089Pro)
NM_001042517.2(DIAPH3):c.3278_3279delinsTG (p.Ser1093Met)
NM_001042517.2(DIAPH3):c.3320-3T>C rs928385662
NM_001042517.2(DIAPH3):c.3340A>G (p.Thr1114Ala)
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
NM_001042517.2(DIAPH3):c.3371A>T (p.Asn1124Ile)
NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr) rs188721921
NM_001042517.2(DIAPH3):c.3427C>A (p.His1143Asn)
NM_001042517.2(DIAPH3):c.3439G>A (p.Gly1147Arg)
NM_001042517.2(DIAPH3):c.3497del (p.Lys1166fs)
NM_001042517.2(DIAPH3):c.3543dup (p.Glu1182fs) rs756660986
NM_001042517.2(DIAPH3):c.3579A>C (p.Leu1193Phe)
NM_001042517.2(DIAPH3):c.40G>C (p.Gly14Arg)
NM_001042517.2(DIAPH3):c.431G>A (p.Arg144Gln)
NM_001042517.2(DIAPH3):c.445A>C (p.Ser149Arg) rs1188611525
NM_001042517.2(DIAPH3):c.494del (p.Thr165fs)
NM_001042517.2(DIAPH3):c.513C>G (p.Ser171Arg)
NM_001042517.2(DIAPH3):c.514C>T (p.Arg172Ter)
NM_001042517.2(DIAPH3):c.545A>G (p.Glu182Gly)
NM_001042517.2(DIAPH3):c.566A>G (p.Asp189Gly)
NM_001042517.2(DIAPH3):c.569A>G (p.Glu190Gly)
NM_001042517.2(DIAPH3):c.599G>A (p.Arg200Gln)
NM_001042517.2(DIAPH3):c.617A>G (p.Asn206Ser)
NM_001042517.2(DIAPH3):c.646C>A (p.His216Asn)
NM_001042517.2(DIAPH3):c.646C>T (p.His216Tyr)
NM_001042517.2(DIAPH3):c.685C>G (p.Leu229Val) rs368324182
NM_001042517.2(DIAPH3):c.71C>T (p.Ser24Leu)
NM_001042517.2(DIAPH3):c.771+1G>A
NM_001042517.2(DIAPH3):c.792G>C (p.Met264Ile)
NM_001042517.2(DIAPH3):c.834T>A (p.Asp278Glu)
NM_001042517.2(DIAPH3):c.83_84delinsAA (p.Arg28Gln) rs2138509335
NM_001042517.2(DIAPH3):c.848A>G (p.Asn283Ser)
NM_001042517.2(DIAPH3):c.920T>C (p.Val307Ala) rs2140936817
NM_001042517.2(DIAPH3):c.927del (p.Ala310fs)
NM_001042517.2(DIAPH3):c.955A>G (p.Lys319Glu)
NM_001042517.2(DIAPH3):c.958del (p.Ile320fs) rs755069320
NM_001042517.2(DIAPH3):c.958dup (p.Ile320fs)
NM_001042517.2(DIAPH3):c.992G>A (p.Arg331Gln)

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