ClinVar Miner

List of variants in gene KMT2B studied for dystonia 28, childhood-onset

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.7091A>G (p.Asp2364Gly) rs231591 0.57367
NM_014727.3(KMT2B):c.7743-9G>T rs2242522 0.41802
NM_014727.3(KMT2B):c.5076+25G>A rs2242520 0.25806
NM_014727.3(KMT2B):c.4257C>T (p.Gly1419=) rs11670414 0.14594
NM_014727.3(KMT2B):c.2572-9C>T rs11084828 0.14579
NM_014727.3(KMT2B):c.1126_1128del (p.Lys376del) rs199534880 0.02723
NM_014727.3(KMT2B):c.1760C>G (p.Pro587Arg) rs2242519 0.00080
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val) rs202048028 0.00021
NM_014727.3(KMT2B):c.1028G>A (p.Arg343Lys) rs200396386 0.00019
NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys) rs748861506 0.00003
NM_014727.3(KMT2B):c.1847G>A (p.Arg616Gln) rs375135657 0.00002
NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr) rs1350666277 0.00002
NM_014727.3(KMT2B):c.5006C>T (p.Ala1669Val) rs1192553029 0.00002
NM_014727.3(KMT2B):c.1337C>T (p.Pro446Leu) rs769921695 0.00001
NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile) rs767324610 0.00001
NM_014727.3(KMT2B):c.4460G>A (p.Arg1487His) rs753899619 0.00001
NM_014727.3(KMT2B):c.5336G>A (p.Arg1779Gln) rs779863547 0.00001
NM_014727.3(KMT2B):c.5621G>A (p.Arg1874Gln) rs1036243378 0.00001
NM_014727.3(KMT2B):c.6170G>A (p.Arg2057His) rs374062006 0.00001
NM_014727.2(KMT2B):c.3059dup rs11373774
NM_014727.3(KMT2B):c.1102A>C (p.Lys368Gln)
NM_014727.3(KMT2B):c.1108GAA[3] (p.Glu373del) rs201152143
NM_014727.3(KMT2B):c.1115A>G (p.Glu372Gly) rs1969140079
NM_014727.3(KMT2B):c.118del (p.Ala40fs) rs1969024891
NM_014727.3(KMT2B):c.1205del (p.Pro402fs) rs1969146161
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.15_24dup (p.Ser9fs) rs1599665134
NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys)
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.2003C>T (p.Pro668Leu) rs1479465736
NM_014727.3(KMT2B):c.2005C>T (p.Pro669Ser)
NM_014727.3(KMT2B):c.2017G>T (p.Ala673Ser)
NM_014727.3(KMT2B):c.2027C>T (p.Ala676Val)
NM_014727.3(KMT2B):c.2061_2062del (p.Pro688fs)
NM_014727.3(KMT2B):c.2422CAG[6] (p.Gln812_Lys813insGln)
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.3(KMT2B):c.2702G>A (p.Arg901Gln)
NM_014727.3(KMT2B):c.278G>C (p.Arg93Pro) rs1969034578
NM_014727.3(KMT2B):c.286_287del (p.Gly96fs)
NM_014727.3(KMT2B):c.3014G>A (p.Cys1005Tyr) rs2146445198
NM_014727.3(KMT2B):c.3335-9_3363del rs1969359289
NM_014727.3(KMT2B):c.3370C>T (p.Pro1124Ser)
NM_014727.3(KMT2B):c.3429+9G>A rs868331986
NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)
NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu) rs1599679995
NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys) rs1599680351
NM_014727.3(KMT2B):c.3769C>T (p.Arg1257Cys)
NM_014727.3(KMT2B):c.3856A>T (p.Thr1286Ser) rs2146451086
NM_014727.3(KMT2B):c.38C>T (p.Pro13Leu)
NM_014727.3(KMT2B):c.3917G>T (p.Cys1306Phe)
NM_014727.3(KMT2B):c.3953G>T (p.Trp1318Leu) rs1969439027
NM_014727.3(KMT2B):c.402dup (p.Ser135fs) rs1057519282
NM_014727.3(KMT2B):c.4043A>G (p.Asn1348Ser)
NM_014727.3(KMT2B):c.4090del (p.Val1364fs)
NM_014727.3(KMT2B):c.4109_4110dup (p.Leu1371fs) rs2146455000
NM_014727.3(KMT2B):c.4154C>T (p.Ser1385Leu) rs1969505297
NM_014727.3(KMT2B):c.4202G>A (p.Trp1401Ter)
NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter) rs748888652
NM_014727.3(KMT2B):c.4307G>A (p.Gly1436Glu)
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter) rs1459799356
NM_014727.3(KMT2B):c.4622C>T (p.Ala1541Val) rs1568377293
NM_014727.3(KMT2B):c.4762G>A (p.Gly1588Arg) rs1228449559
NM_014727.3(KMT2B):c.4765del (p.Asp1589fs)
NM_014727.3(KMT2B):c.4766_4768del (p.Asp1589del) rs1568377563
NM_014727.3(KMT2B):c.4844C>T (p.Ser1615Leu) rs2146459766
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) rs1599687853
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe) rs1555731819
NM_014727.3(KMT2B):c.4955G>A (p.Gly1652Asp) rs1555731832
NM_014727.3(KMT2B):c.4960T>C (p.Cys1654Arg) rs1599689373
NM_014727.3(KMT2B):c.4986C>A (p.Phe1662Leu) rs372432644
NM_014727.3(KMT2B):c.5002C>T (p.Arg1668Trp)
NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs)
NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=) rs2146461810
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014727.3(KMT2B):c.5179G>T (p.Ala1727Ser)
NM_014727.3(KMT2B):c.521dup (p.Thr176fs) rs763183959
NM_014727.3(KMT2B):c.5230_5233del (p.Ser1744fs) rs2146462970
NM_014727.3(KMT2B):c.5284C>T (p.Arg1762Cys) rs1489232377
NM_014727.3(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151
NM_014727.3(KMT2B):c.5342T>C (p.Leu1781Pro) rs1555732094
NM_014727.3(KMT2B):c.5452G>A (p.Glu1818Lys)
NM_014727.3(KMT2B):c.5462C>G (p.Pro1821Arg) rs748336996
NM_014727.3(KMT2B):c.5561C>T (p.Pro1854Leu)
NM_014727.3(KMT2B):c.5615C>T (p.Pro1872Leu)
NM_014727.3(KMT2B):c.5741_5748dup (p.Ser1917fs)
NM_014727.3(KMT2B):c.5974G>T (p.Asp1992Tyr) rs771880175
NM_014727.3(KMT2B):c.610C>T (p.Gln204Ter)
NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=) rs375564425
NM_014727.3(KMT2B):c.6406del (p.Leu2136fs) rs1057519278
NM_014727.3(KMT2B):c.6413dup (p.Ala2139fs) rs754806477
NM_014727.3(KMT2B):c.648_649insA (p.Arg217fs) rs1599668553
NM_014727.3(KMT2B):c.683del (p.Ala228fs) rs2146434180
NM_014727.3(KMT2B):c.6919T>C (p.Ser2307Pro) rs1410535754
NM_014727.3(KMT2B):c.6960-8C>T
NM_014727.3(KMT2B):c.7012del (p.Asp2338fs)
NM_014727.3(KMT2B):c.7050-2A>G rs1057519280
NM_014727.3(KMT2B):c.7187C>T (p.Pro2396Leu)
NM_014727.3(KMT2B):c.7225C>T (p.Arg2409Trp)
NM_014727.3(KMT2B):c.7348C>T (p.Arg2450Ter) rs1568384928
NM_014727.3(KMT2B):c.7470C>A (p.Phe2490Leu) rs2146479981
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs) rs2146481256
NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly)
NM_014727.3(KMT2B):c.7693C>T (p.Arg2565Cys) rs2146481783
NM_014727.3(KMT2B):c.7921G>A (p.Ala2641Thr) rs2146482963
NM_014727.3(KMT2B):c.7984C>T (p.Arg2662Trp) rs2146483064
NM_014727.3(KMT2B):c.8021T>C (p.Ile2674Thr) rs1555735051
NM_014727.3(KMT2B):c.977G>A (p.Gly326Asp)

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