ClinVar Miner

List of variants in gene KMT2A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.6124G>A (p.Asp2042Asn) rs781848142 0.00005
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_001197104.2(KMT2A):c.10208C>T (p.Pro3403Leu) rs942230098 0.00003
NM_001197104.2(KMT2A):c.3505G>C (p.Val1169Leu) rs782680161 0.00002
NM_001197104.2(KMT2A):c.5665-10T>C rs1401608038 0.00002
NM_001197104.2(KMT2A):c.14G>C (p.Cys5Ser) rs1336274284 0.00001
NM_001197104.2(KMT2A):c.176C>G (p.Ala59Gly) rs1949188671 0.00001
NM_001197104.2(KMT2A):c.229G>A (p.Gly77Arg) rs1555138644 0.00001
NM_001197104.2(KMT2A):c.257C>T (p.Ser86Leu) rs1343124835 0.00001
NM_001197104.2(KMT2A):c.4061C>A (p.Pro1354His) rs201813757 0.00001
NM_001197104.2(KMT2A):c.4147C>G (p.Leu1383Val) rs782199067 0.00001
NM_001197104.2(KMT2A):c.5066C>G (p.Pro1689Arg) rs782799073 0.00001
NM_001197104.2(KMT2A):c.5287C>T (p.Arg1763Trp) rs999060359 0.00001
NM_001197104.2(KMT2A):c.9355G>C (p.Glu3119Gln) rs1950560997 0.00001
NM_001197104.2(KMT2A):c.9716C>T (p.Pro3239Leu) rs1085307488 0.00001
NM_001197104.2(KMT2A):c.1018C>T (p.Leu340Phe) rs1458108170
NM_001197104.2(KMT2A):c.10391G>A (p.Ser3464Asn)
NM_001197104.2(KMT2A):c.1042G>T (p.Val348Phe)
NM_001197104.2(KMT2A):c.10448T>C (p.Val3483Ala) rs2134412725
NM_001197104.2(KMT2A):c.1054C>T (p.Pro352Ser) rs2134259845
NM_001197104.2(KMT2A):c.10675A>C (p.Lys3559Gln)
NM_001197104.2(KMT2A):c.10755-3C>A rs2134419199
NM_001197104.2(KMT2A):c.10834G>A (p.Gly3612Arg) rs2134419770
NM_001197104.2(KMT2A):c.1141A>G (p.Lys381Glu)
NM_001197104.2(KMT2A):c.1249A>G (p.Ile417Val)
NM_001197104.2(KMT2A):c.1340C>T (p.Pro447Leu)
NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg) rs2134152876
NM_001197104.2(KMT2A):c.1370G>C (p.Gly457Ala) rs2134261486
NM_001197104.2(KMT2A):c.1517C>A (p.Thr506Asn) rs936693402
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala) rs191014566
NM_001197104.2(KMT2A):c.1524A>C (p.Glu508Asp)
NM_001197104.2(KMT2A):c.1690C>A (p.Pro564Thr) rs2134263596
NM_001197104.2(KMT2A):c.1907A>C (p.Lys636Thr)
NM_001197104.2(KMT2A):c.1931G>A (p.Arg644His)
NM_001197104.2(KMT2A):c.1997G>T (p.Gly666Val)
NM_001197104.2(KMT2A):c.2038T>C (p.Ser680Pro)
NM_001197104.2(KMT2A):c.2099C>T (p.Pro700Leu) rs2134266194
NM_001197104.2(KMT2A):c.209G>C (p.Ser70Thr) rs1177309170
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser) rs1555036397
NM_001197104.2(KMT2A):c.2356C>T (p.Pro786Ser)
NM_001197104.2(KMT2A):c.2405C>T (p.Ser802Phe) rs782623689
NM_001197104.2(KMT2A):c.2543G>A (p.Gly848Glu)
NM_001197104.2(KMT2A):c.2661_2663delinsTTT (p.Glu887_Ser888delinsAspLeu) rs2134270993
NM_001197104.2(KMT2A):c.2724G>C (p.Val908=) rs2134271327
NM_001197104.2(KMT2A):c.3005C>A (p.Ser1002Tyr) rs2134273003
NM_001197104.2(KMT2A):c.3040G>C (p.Asp1014His)
NM_001197104.2(KMT2A):c.304G>A (p.Gly102Arg)
NM_001197104.2(KMT2A):c.3065G>A (p.Arg1022Lys)
NM_001197104.2(KMT2A):c.3110T>C (p.Ile1037Thr) rs2134273544
NM_001197104.2(KMT2A):c.322G>C (p.Val108Leu)
NM_001197104.2(KMT2A):c.3380C>T (p.Pro1127Leu) rs2134286553
NM_001197104.2(KMT2A):c.3448C>T (p.Arg1150Cys) rs2134286837
NM_001197104.2(KMT2A):c.3545G>A (p.Arg1182His) rs782323910
NM_001197104.2(KMT2A):c.3573G>A (p.Met1191Ile)
NM_001197104.2(KMT2A):c.362C>T (p.Ala121Val) rs2134155022
NM_001197104.2(KMT2A):c.3704A>G (p.Lys1235Arg) rs1325884084
NM_001197104.2(KMT2A):c.3761C>T (p.Pro1254Leu) rs2134299970
NM_001197104.2(KMT2A):c.3838G>A (p.Gly1280Arg)
NM_001197104.2(KMT2A):c.3865C>G (p.Pro1289Ala) rs2134300743
NM_001197104.2(KMT2A):c.4000C>T (p.Pro1334Ser)
NM_001197104.2(KMT2A):c.409G>T (p.Gly137Cys) rs2134155322
NM_001197104.2(KMT2A):c.4132A>G (p.Asn1378Asp)
NM_001197104.2(KMT2A):c.4346A>G (p.Gln1449Arg) rs2134327631
NM_001197104.2(KMT2A):c.4471G>C (p.Ala1491Pro)
NM_001197104.2(KMT2A):c.4597T>C (p.Cys1533Arg)
NM_001197104.2(KMT2A):c.4619C>A (p.Thr1540Asn)
NM_001197104.2(KMT2A):c.4757T>C (p.Met1586Thr)
NM_001197104.2(KMT2A):c.4772G>A (p.Cys1591Tyr)
NM_001197104.2(KMT2A):c.4808C>T (p.Ser1603Leu) rs2134339205
NM_001197104.2(KMT2A):c.485C>G (p.Pro162Arg)
NM_001197104.2(KMT2A):c.4885G>A (p.Glu1629Lys)
NM_001197104.2(KMT2A):c.5004G>A (p.Gln1668=)
NM_001197104.2(KMT2A):c.5113G>C (p.Asp1705His)
NM_001197104.2(KMT2A):c.5117AGC[3] (p.Gln1707_Pro1708insGln)
NM_001197104.2(KMT2A):c.514C>T (p.Pro172Ser) rs2134257080
NM_001197104.2(KMT2A):c.5335T>C (p.Phe1779Leu) rs1950377167
NM_001197104.2(KMT2A):c.5383G>A (p.Ala1795Thr) rs1565296868
NM_001197104.2(KMT2A):c.539G>C (p.Arg180Thr)
NM_001197104.2(KMT2A):c.5585C>T (p.Pro1862Leu)
NM_001197104.2(KMT2A):c.5824C>T (p.Pro1942Ser)
NM_001197104.2(KMT2A):c.6251C>T (p.Pro2084Leu) rs782582553
NM_001197104.2(KMT2A):c.6293T>C (p.Ile2098Thr)
NM_001197104.2(KMT2A):c.6298C>T (p.His2100Tyr)
NM_001197104.2(KMT2A):c.6383C>A (p.Pro2128His)
NM_001197104.2(KMT2A):c.6490C>T (p.Pro2164Ser) rs2134382151
NM_001197104.2(KMT2A):c.6512C>T (p.Pro2171Leu) rs2134384125
NM_001197104.2(KMT2A):c.6737T>A (p.Val2246Asp) rs139450035
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)
NM_001197104.2(KMT2A):c.6890C>T (p.Ser2297Leu)
NM_001197104.2(KMT2A):c.6897G>T (p.Leu2299Phe)
NM_001197104.2(KMT2A):c.6911C>A (p.Ser2304Tyr) rs1565302475
NM_001197104.2(KMT2A):c.6976G>A (p.Val2326Met)
NM_001197104.2(KMT2A):c.703A>G (p.Ile235Val)
NM_001197104.2(KMT2A):c.7363G>A (p.Val2455Met)
NM_001197104.2(KMT2A):c.7373G>A (p.Gly2458Asp) rs1367628820
NM_001197104.2(KMT2A):c.7526_7528del (p.Glu2509del)
NM_001197104.2(KMT2A):c.7549G>A (p.Ala2517Thr)
NM_001197104.2(KMT2A):c.7648C>T (p.Pro2550Ser)
NM_001197104.2(KMT2A):c.7792G>A (p.Asp2598Asn)
NM_001197104.2(KMT2A):c.795G>T (p.Gln265His) rs782173501
NM_001197104.2(KMT2A):c.8136T>G (p.Cys2712Trp)
NM_001197104.2(KMT2A):c.8191A>G (p.Thr2731Ala)
NM_001197104.2(KMT2A):c.8336A>G (p.Asn2779Ser)
NM_001197104.2(KMT2A):c.8347A>G (p.Met2783Val) rs2134398154
NM_001197104.2(KMT2A):c.8351A>G (p.Asp2784Gly) rs1040253228
NM_001197104.2(KMT2A):c.8365G>A (p.Val2789Ile) rs2134398262
NM_001197104.2(KMT2A):c.8491C>G (p.Leu2831Val)
NM_001197104.2(KMT2A):c.8527G>T (p.Asp2843Tyr)
NM_001197104.2(KMT2A):c.8623T>C (p.Ser2875Pro) rs2134399810
NM_001197104.2(KMT2A):c.8647G>A (p.Gly2883Arg)
NM_001197104.2(KMT2A):c.8824C>T (p.Pro2942Ser)
NM_001197104.2(KMT2A):c.902G>A (p.Arg301Gln)
NM_001197104.2(KMT2A):c.9127C>G (p.Pro3043Ala)
NM_001197104.2(KMT2A):c.9255C>A (p.Asn3085Lys)
NM_001197104.2(KMT2A):c.9299G>C (p.Gly3100Ala) rs2134404319
NM_001197104.2(KMT2A):c.9386G>C (p.Gly3129Ala) rs2134404929
NM_001197104.2(KMT2A):c.9523A>G (p.Ser3175Gly)
NM_001197104.2(KMT2A):c.9751G>T (p.Val3251Leu)
NM_001197104.2(KMT2A):c.9794T>A (p.Leu3265His)
NM_001197104.2(KMT2A):c.9799A>C (p.Asn3267His)
NM_001197104.2(KMT2A):c.9857C>T (p.Pro3286Leu)
NM_001197104.2(KMT2A):c.9885CAT[1] (p.Ile3296del) rs1453529585
NM_001197104.2(KMT2A):c.9890T>C (p.Met3297Thr)
NM_001197104.2(KMT2A):c.9976A>G (p.Thr3326Ala)

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