ClinVar Miner

List of variants in gene KMT2B reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.1259C>G (p.Pro420Arg) rs953781410 0.00005
NM_014727.3(KMT2B):c.127G>C (p.Val43Leu) rs866302515 0.00001
NM_014727.3(KMT2B):c.1828C>T (p.Arg610Cys) rs911830364 0.00001
NM_014727.3(KMT2B):c.2456C>T (p.Pro819Leu) rs199638121 0.00001
NM_014727.3(KMT2B):c.3353C>T (p.Pro1118Leu) rs369558462 0.00001
NM_014727.3(KMT2B):c.3905G>A (p.Arg1302His) rs771289674 0.00001
NM_014727.3(KMT2B):c.5435C>T (p.Ser1812Leu) rs200571590 0.00001
NM_014727.3(KMT2B):c.1026A>C (p.Arg342Ser)
NM_014727.3(KMT2B):c.1080G>T (p.Lys360Asn)
NM_014727.3(KMT2B):c.1106A>G (p.Lys369Arg)
NM_014727.3(KMT2B):c.1117G>A (p.Glu373Lys)
NM_014727.3(KMT2B):c.113A>G (p.Asn38Ser)
NM_014727.3(KMT2B):c.1291C>G (p.Pro431Ala)
NM_014727.3(KMT2B):c.1369CCT[2] (p.Pro459del)
NM_014727.3(KMT2B):c.1391C>T (p.Thr464Met)
NM_014727.3(KMT2B):c.1435C>T (p.Arg479Trp)
NM_014727.3(KMT2B):c.1439C>T (p.Ala480Val)
NM_014727.3(KMT2B):c.1756G>A (p.Ala586Thr)
NM_014727.3(KMT2B):c.1924C>T (p.Arg642Trp)
NM_014727.3(KMT2B):c.2080C>T (p.Arg694Trp)
NM_014727.3(KMT2B):c.2255C>A (p.Ala752Glu)
NM_014727.3(KMT2B):c.2263C>T (p.Pro755Ser)
NM_014727.3(KMT2B):c.2329A>G (p.Ile777Val)
NM_014727.3(KMT2B):c.238C>T (p.Leu80Phe) rs1258088207
NM_014727.3(KMT2B):c.2424G>T (p.Gln808His)
NM_014727.3(KMT2B):c.2455C>T (p.Pro819Ser)
NM_014727.3(KMT2B):c.2635C>G (p.Leu879Val)
NM_014727.3(KMT2B):c.2800G>A (p.Gly934Arg)
NM_014727.3(KMT2B):c.280G>A (p.Gly94Arg)
NM_014727.3(KMT2B):c.2828G>A (p.Gly943Glu)
NM_014727.3(KMT2B):c.2849G>A (p.Arg950Gln)
NM_014727.3(KMT2B):c.3164G>C (p.Arg1055Pro)
NM_014727.3(KMT2B):c.3283T>C (p.Ser1095Pro)
NM_014727.3(KMT2B):c.3284C>T (p.Ser1095Leu)
NM_014727.3(KMT2B):c.3292G>T (p.Gly1098Trp)
NM_014727.3(KMT2B):c.3320C>A (p.Thr1107Asn)
NM_014727.3(KMT2B):c.3448C>T (p.Pro1150Ser)
NM_014727.3(KMT2B):c.3515G>A (p.Arg1172His)
NM_014727.3(KMT2B):c.3770G>A (p.Arg1257His)
NM_014727.3(KMT2B):c.3778C>T (p.Arg1260Cys)
NM_014727.3(KMT2B):c.3851A>G (p.Tyr1284Cys)
NM_014727.3(KMT2B):c.3859C>T (p.Arg1287Trp)
NM_014727.3(KMT2B):c.3866C>T (p.Thr1289Met)
NM_014727.3(KMT2B):c.4207G>A (p.Glu1403Lys)
NM_014727.3(KMT2B):c.4241G>A (p.Arg1414His)
NM_014727.3(KMT2B):c.4337C>T (p.Pro1446Leu)
NM_014727.3(KMT2B):c.4363C>T (p.Arg1455Cys) rs1555731093
NM_014727.3(KMT2B):c.4433A>G (p.His1478Arg)
NM_014727.3(KMT2B):c.4453C>G (p.Pro1485Ala)
NM_014727.3(KMT2B):c.4465G>T (p.Ala1489Ser)
NM_014727.3(KMT2B):c.4487T>C (p.Leu1496Pro)
NM_014727.3(KMT2B):c.4550G>A (p.Arg1517Gln)
NM_014727.3(KMT2B):c.476C>T (p.Thr159Ile)
NM_014727.3(KMT2B):c.4844C>T (p.Ser1615Leu) rs2146459766
NM_014727.3(KMT2B):c.511C>T (p.Pro171Ser)
NM_014727.3(KMT2B):c.5246G>T (p.Cys1749Phe)
NM_014727.3(KMT2B):c.532G>A (p.Ala178Thr)
NM_014727.3(KMT2B):c.5363C>T (p.Pro1788Leu) rs773061649
NM_014727.3(KMT2B):c.5462C>A (p.Pro1821Gln) rs748336996
NM_014727.3(KMT2B):c.5539C>A (p.Pro1847Thr)
NM_014727.3(KMT2B):c.5912A>G (p.Glu1971Gly)
NM_014727.3(KMT2B):c.5947G>A (p.Val1983Met)
NM_014727.3(KMT2B):c.5996G>A (p.Gly1999Glu) rs1223543367
NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)
NM_014727.3(KMT2B):c.6248C>T (p.Thr2083Met)
NM_014727.3(KMT2B):c.6332C>T (p.Ser2111Leu)
NM_014727.3(KMT2B):c.6733G>C (p.Val2245Leu)
NM_014727.3(KMT2B):c.6890C>A (p.Ala2297Asp)
NM_014727.3(KMT2B):c.6901G>C (p.Asp2301His)
NM_014727.3(KMT2B):c.6995G>A (p.Arg2332His)
NM_014727.3(KMT2B):c.710C>T (p.Ala237Val)
NM_014727.3(KMT2B):c.736A>G (p.Thr246Ala)
NM_014727.3(KMT2B):c.7466A>C (p.Lys2489Thr)
NM_014727.3(KMT2B):c.842G>A (p.Arg281His)
NM_014727.3(KMT2B):c.962T>C (p.Leu321Ser)
NM_014727.3(KMT2B):c.977G>A (p.Gly326Asp)

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