ClinVar Miner

List of variants in gene KMT2D reported by Baylor Genetics

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.4570C>T (p.Arg1524Cys) rs1411795103 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003482.4(KMT2D):c.13839+3C>T rs1218915669 0.00002
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) rs1299043216 0.00001
NM_003482.4(KMT2D):c.14075+8C>T rs962057732 0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) rs1938304119 0.00001
NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr) rs1196290590 0.00001
NM_003482.4(KMT2D):c.8506C>T (p.Arg2836Cys) rs1346754879 0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) rs746344900 0.00001
NM_003482.4(KMT2D):c.10346G>T (p.Gly3449Val) rs1439251946
NM_003482.4(KMT2D):c.10496_10497del (p.Gln3499fs)
NM_003482.4(KMT2D):c.10688dup (p.Leu3564fs) rs1943096023
NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter)
NM_003482.4(KMT2D):c.11503C>T (p.Leu3835Phe)
NM_003482.4(KMT2D):c.11568GCA[2] (p.Gln3861_Gln3863del)
NM_003482.4(KMT2D):c.1231C>T (p.Pro411Ser) rs1367939301
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.14905G>A (p.Glu4969Lys) rs1363299847
NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His) rs1592105909
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15424T>C (p.Cys5142Arg)
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs) rs1565756561
NM_003482.4(KMT2D):c.1603C>T (p.Pro535Ser)
NM_003482.4(KMT2D):c.1634del (p.Leu545fs) rs886039399
NM_003482.4(KMT2D):c.204_205del (p.Leu68_Cys69insTer) rs1938301071
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.2389C>G (p.Leu797Val) rs1057518680
NM_003482.4(KMT2D):c.4727A>G (p.Lys1576Arg) rs1943763073
NM_003482.4(KMT2D):c.4810A>G (p.Thr1604Ala) rs1943716640
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.6110-2A>G rs1943556576
NM_003482.4(KMT2D):c.7378del (p.Arg2460fs) rs1943453335
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869
NM_003482.4(KMT2D):c.7938del (p.Asp2647fs) rs1943409769
NM_003482.4(KMT2D):c.8003_8007del (p.Gly2668fs)
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) rs774178055
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003482.4(KMT2D):c.8259A>G (p.Pro2753=) rs1592132885
NM_003482.4(KMT2D):c.8367-3C>A rs1943358511
NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)
NM_003482.4(KMT2D):c.8765G>C (p.Arg2922Pro) rs757791539
NM_003482.4(KMT2D):c.8767G>T (p.Gly2923Cys) rs988820724
NM_003482.4(KMT2D):c.91T>C (p.Ser31Pro) rs1938321808

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