ClinVar Miner

List of variants in gene KMT5B reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_017635.5(KMT5B):c.559C>A (p.Arg187=) rs114727354 0.01415
NM_017635.5(KMT5B):c.2267A>G (p.Asn756Ser) rs144458991 0.00312
NM_017635.5(KMT5B):c.1239A>G (p.Gln413=) rs115159598 0.00240
NM_017635.5(KMT5B):c.384G>A (p.Arg128=) rs140940573 0.00088
NM_017635.5(KMT5B):c.1562C>T (p.Pro521Leu) rs140037372 0.00034
NM_017635.5(KMT5B):c.1981G>A (p.Val661Met) rs377537908 0.00004
NM_017635.5(KMT5B):c.26A>C (p.Asn9Thr) rs2512606 0.00001
NM_017635.5(KMT5B):c.497A>G (p.Tyr166Cys) rs1384143062 0.00001
NM_017635.5(KMT5B):c.1019C>T (p.Ala340Val)
NM_017635.5(KMT5B):c.1184G>A (p.Arg395Gln)
NM_017635.5(KMT5B):c.1237del (p.Gln413fs) rs2153041026
NM_017635.5(KMT5B):c.1298A>G (p.Asn433Ser)
NM_017635.5(KMT5B):c.136G>A (p.Ala46Thr)
NM_017635.5(KMT5B):c.1380G>C (p.Arg460=)
NM_017635.5(KMT5B):c.1506C>T (p.Ala502=)
NM_017635.5(KMT5B):c.1509A>G (p.Ala503=)
NM_017635.5(KMT5B):c.1580C>T (p.Ser527Leu)
NM_017635.5(KMT5B):c.1587G>C (p.Gly529=)
NM_017635.5(KMT5B):c.1595C>T (p.Ser532Leu)
NM_017635.5(KMT5B):c.1683G>T (p.Leu561Phe)
NM_017635.5(KMT5B):c.1706C>T (p.Thr569Met)
NM_017635.5(KMT5B):c.1707G>A (p.Thr569=)
NM_017635.5(KMT5B):c.1720G>A (p.Asp574Asn)
NM_017635.5(KMT5B):c.1723_1725del (p.Ser575del)
NM_017635.5(KMT5B):c.1762G>A (p.Glu588Lys)
NM_017635.5(KMT5B):c.1771G>A (p.Ala591Thr)
NM_017635.5(KMT5B):c.1786C>G (p.Gln596Glu)
NM_017635.5(KMT5B):c.1810A>G (p.Lys604Glu)
NM_017635.5(KMT5B):c.1820C>T (p.Thr607Ile)
NM_017635.5(KMT5B):c.1831A>G (p.Lys611Glu) rs2153040457
NM_017635.5(KMT5B):c.1843C>A (p.Arg615=)
NM_017635.5(KMT5B):c.1851A>C (p.Gly617=)
NM_017635.5(KMT5B):c.1889C>A (p.Thr630Asn) rs1184050101
NM_017635.5(KMT5B):c.1894G>C (p.Val632Leu)
NM_017635.5(KMT5B):c.1954C>G (p.Gln652Glu) rs1859455128
NM_017635.5(KMT5B):c.2019C>T (p.Val673=)
NM_017635.5(KMT5B):c.2218T>C (p.Ser740Pro)
NM_017635.5(KMT5B):c.2408G>A (p.Ser803Asn)
NM_017635.5(KMT5B):c.2435G>A (p.Arg812Gln)
NM_017635.5(KMT5B):c.2462A>G (p.Tyr821Cys)
NM_017635.5(KMT5B):c.2469A>G (p.Glu823=)
NM_017635.5(KMT5B):c.267T>C (p.Leu89=)
NM_017635.5(KMT5B):c.625G>A (p.Gly209Arg)
NM_017635.5(KMT5B):c.696C>G (p.Ala232=)
NM_017635.5(KMT5B):c.821-2A>G rs1590955042
NM_017635.5(KMT5B):c.913T>C (p.Cys305Arg)
NM_017635.5(KMT5B):c.957C>T (p.Cys319=)

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