List of variants in gene KMT2B reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_014727.3(KMT2B):c.6321G>A (p.Glu2107=)	rs200327646	0.00294
NM_014727.3(KMT2B):c.1575G>A (p.Arg525=)	rs116170996	0.00269
NM_014727.3(KMT2B):c.2835G>C (p.Leu945=)	rs182457846	0.00172
NM_014727.3(KMT2B):c.885C>T (p.Arg295=)	rs200352707	0.00168
NM_014727.3(KMT2B):c.3276G>A (p.Ser1092=)	rs199942615	0.00160
NM_014727.3(KMT2B):c.7185G>A (p.Glu2395=)	rs138094783	0.00122
NM_014727.3(KMT2B):c.759A>G (p.Pro253=)	rs183287776	0.00119
NM_014727.3(KMT2B):c.3867G>A (p.Thr1289=)	rs146372727	0.00084
NM_014727.3(KMT2B):c.6558C>T (p.Pro2186=)	rs777573810	0.00068
NM_014727.3(KMT2B):c.454C>T (p.Arg152Trp)	rs200918556	0.00058
NM_014727.3(KMT2B):c.2871C>T (p.His957=)	rs200235630	0.00056
NM_014727.3(KMT2B):c.6051C>T (p.His2017=)	rs374561411	0.00056
NM_014727.3(KMT2B):c.2497G>A (p.Val833Ile)	rs113208903	0.00054
NM_014727.3(KMT2B):c.3711G>A (p.Leu1237=)	rs111726564	0.00053
NM_014727.3(KMT2B):c.6867G>A (p.Pro2289=)	rs199657659	0.00047
NM_014727.3(KMT2B):c.1212G>A (p.Pro404=)	rs574300657	0.00046
NM_014727.3(KMT2B):c.4599C>T (p.Pro1533=)	rs201593055	0.00040
NM_014727.3(KMT2B):c.342T>C (p.Ser114=)	rs369129941	0.00029
NM_014727.3(KMT2B):c.2490C>T (p.Ala830=)	rs377430041	0.00024
NM_014727.3(KMT2B):c.1028G>A (p.Arg343Lys)	rs200396386	0.00019
NM_014727.3(KMT2B):c.6201C>T (p.Gly2067=)	rs191770935	0.00018
NM_014727.3(KMT2B):c.7788C>T (p.Asp2596=)	rs61743066	0.00018
NM_014727.3(KMT2B):c.6628C>T (p.Pro2210Ser)	rs373926591	0.00013
NM_014727.3(KMT2B):c.306C>A (p.Gly102=)	rs761727342	0.00012
NM_014727.3(KMT2B):c.4944C>T (p.Gly1648=)	rs372900103	0.00012
NM_014727.3(KMT2B):c.4923C>T (p.Cys1641=)	rs192205094	0.00009
NM_014727.3(KMT2B):c.5889G>A (p.Pro1963=)	rs775753855	0.00006
NM_014727.3(KMT2B):c.5184C>T (p.Ile1728=)	rs763842063	0.00005
NM_014727.3(KMT2B):c.7506G>A (p.Pro2502=)	rs375273504	0.00002
NM_014727.3(KMT2B):c.127G>C (p.Val43Leu)	rs866302515	0.00001
NM_014727.3(KMT2B):c.1440G>A (p.Ala480=)	rs1008249304	0.00001
NM_014727.3(KMT2B):c.2577C>T (p.Pro859=)	rs756586097	0.00001
NM_014727.3(KMT2B):c.3813C>T (p.Cys1271=)	rs371853461	0.00001
NM_014727.3(KMT2B):c.4845G>A (p.Ser1615=)	rs760914884	0.00001
NM_014727.3(KMT2B):c.1089C>T (p.Asp363=)
NM_014727.3(KMT2B):c.1116A>G (p.Glu372=)
NM_014727.3(KMT2B):c.1154C>T (p.Ala385Val)
NM_014727.3(KMT2B):c.1155T>A (p.Ala385=)
NM_014727.3(KMT2B):c.1201C>T (p.Leu401=)
NM_014727.3(KMT2B):c.1245A>C (p.Pro415=)
NM_014727.3(KMT2B):c.1269TCC[1] (p.Pro427del)
NM_014727.3(KMT2B):c.1299A>C (p.Pro433=)
NM_014727.3(KMT2B):c.1305A>C (p.Pro435=)	rs772084089
NM_014727.3(KMT2B):c.1344T>A (p.Pro448=)
NM_014727.3(KMT2B):c.1521G>A (p.Pro507=)
NM_014727.3(KMT2B):c.1671G>A (p.Val557=)
NM_014727.3(KMT2B):c.1769C>T (p.Pro590Leu)
NM_014727.3(KMT2B):c.2034G>A (p.Glu678=)	rs2146439246
NM_014727.3(KMT2B):c.2337C>T (p.Gly779=)
NM_014727.3(KMT2B):c.2562G>A (p.Glu854=)
NM_014727.3(KMT2B):c.2730A>G (p.Ser910=)
NM_014727.3(KMT2B):c.2916C>T (p.Cys972=)
NM_014727.3(KMT2B):c.3171G>A (p.Glu1057=)
NM_014727.3(KMT2B):c.3457T>G (p.Ser1153Ala)
NM_014727.3(KMT2B):c.3529-3dup	rs539483328
NM_014727.3(KMT2B):c.3585T>C (p.Ser1195=)
NM_014727.3(KMT2B):c.3747C>T (p.Cys1249=)
NM_014727.3(KMT2B):c.4128C>T (p.Tyr1376=)
NM_014727.3(KMT2B):c.4176G>A (p.Pro1392=)
NM_014727.3(KMT2B):c.42C>T (p.Gly14=)
NM_014727.3(KMT2B):c.4434C>T (p.His1478=)
NM_014727.3(KMT2B):c.4437G>A (p.Ser1479=)
NM_014727.3(KMT2B):c.465G>A (p.Lys155=)
NM_014727.3(KMT2B):c.4671A>G (p.Pro1557=)
NM_014727.3(KMT2B):c.4869C>T (p.Asp1623=)
NM_014727.3(KMT2B):c.520C>G (p.Pro174Ala)
NM_014727.3(KMT2B):c.5280C>T (p.Cys1760=)
NM_014727.3(KMT2B):c.5364G>A (p.Pro1788=)
NM_014727.3(KMT2B):c.5553C>T (p.Ser1851=)
NM_014727.3(KMT2B):c.5730C>T (p.Pro1910=)
NM_014727.3(KMT2B):c.5792C>A (p.Pro1931His)	rs201672736
NM_014727.3(KMT2B):c.6027C>T (p.Ala2009=)
NM_014727.3(KMT2B):c.6111C>T (p.Phe2037=)
NM_014727.3(KMT2B):c.6198C>T (p.Asp2066=)
NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=)	rs375564425
NM_014727.3(KMT2B):c.6249G>T (p.Thr2083=)	rs375564425
NM_014727.3(KMT2B):c.6450A>G (p.Gln2150=)
NM_014727.3(KMT2B):c.6642A>C (p.Pro2214=)
NM_014727.3(KMT2B):c.6720C>G (p.Leu2240=)	rs923176238
NM_014727.3(KMT2B):c.6801G>T (p.Gly2267=)
NM_014727.3(KMT2B):c.6883T>A (p.Tyr2295Asn)
NM_014727.3(KMT2B):c.7260T>C (p.Ser2420=)	rs760291756
NM_014727.3(KMT2B):c.7297+7G>A
NM_014727.3(KMT2B):c.7297+7G>C	rs201555369
NM_014727.3(KMT2B):c.7297+7G>T	rs201555369
NM_014727.3(KMT2B):c.739A>G (p.Ile247Val)
NM_014727.3(KMT2B):c.8064C>T (p.Tyr2688=)
NM_014727.3(KMT2B):c.831G>A (p.Gly277=)	rs2146434559
NM_014727.3(KMT2B):c.976GGTCAA[2] (p.326GQ[2])	rs756646242

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