ClinVar Miner

List of variants in gene KMT2E reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.5350C>T (p.Pro1784Ser) rs145540034 0.00197
NM_182931.3(KMT2E):c.4220A>G (p.Asn1407Ser) rs77885224 0.00161
NM_182931.3(KMT2E):c.1257T>C (p.His419=) rs151074690 0.00094
NM_182931.3(KMT2E):c.3584A>G (p.Asn1195Ser) rs145923995 0.00069
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu) rs144839449 0.00027
NM_182931.3(KMT2E):c.72-8C>T rs368980325 0.00017
NM_182931.3(KMT2E):c.75A>G (p.Pro25=) rs138149088 0.00013
NM_182931.3(KMT2E):c.5043A>T (p.Pro1681=) rs780916307 0.00010
NM_182931.3(KMT2E):c.4914G>A (p.Pro1638=) rs546519781 0.00009
NM_182931.3(KMT2E):c.4552T>C (p.Leu1518=) rs546695982 0.00005
NM_182931.3(KMT2E):c.4998G>A (p.Ser1666=) rs147477523 0.00005
NM_182931.3(KMT2E):c.1143T>C (p.Phe381=) rs753249523 0.00004
NM_182931.3(KMT2E):c.4526A>G (p.Asn1509Ser) rs550780791 0.00003
NM_182931.3(KMT2E):c.5163G>A (p.Pro1721=) rs531981161 0.00003
NM_182931.3(KMT2E):c.957C>T (p.Ser319=) rs755512418 0.00003
NM_182931.3(KMT2E):c.3165G>A (p.Ser1055=) rs753691080 0.00001
NM_182931.3(KMT2E):c.3585T>C (p.Asn1195=) rs781302931 0.00001
NM_182931.3(KMT2E):c.4222A>C (p.Asn1408His) rs575388598 0.00001
NM_182931.3(KMT2E):c.5301T>C (p.His1767=) rs1229067251 0.00001
NM_182931.3(KMT2E):c.1130+4T>C rs756516045
NM_182931.3(KMT2E):c.3270G>C (p.Ser1090=) rs753525899
NM_182931.3(KMT2E):c.4639CCACCTCCT[3] (p.Pro1552_Ser1553insProProPro) rs749591342
NM_182931.3(KMT2E):c.4650A>G (p.Pro1550=)
NM_182931.3(KMT2E):c.4809C>T (p.His1603=) rs752450742
NM_182931.3(KMT2E):c.972C>T (p.Asn324=)

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