ClinVar Miner

List of variants in gene KMT5B studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017635.5(KMT5B):c.2267A>G (p.Asn756Ser) rs144458991 0.00312
NM_017635.5(KMT5B):c.1562C>T (p.Pro521Leu) rs140037372 0.00034
NM_017635.5(KMT5B):c.378-5T>C rs946308409 0.00001
NM_017635.5(KMT5B):c.142G>A (p.Glu48Lys) rs1256875734
NM_017635.5(KMT5B):c.162T>G (p.Cys54Trp)
NM_017635.5(KMT5B):c.1683G>T (p.Leu561Phe)
NM_017635.5(KMT5B):c.1706C>T (p.Thr569Met)
NM_017635.5(KMT5B):c.1765G>C (p.Glu589Gln)
NM_017635.5(KMT5B):c.1786C>G (p.Gln596Glu)
NM_017635.5(KMT5B):c.1921G>A (p.Ala641Thr)
NM_017635.5(KMT5B):c.2014C>T (p.Pro672Ser)
NM_017635.5(KMT5B):c.2162G>A (p.Arg721His) rs1555022623
NM_017635.5(KMT5B):c.2192del (p.Asn731fs)
NM_017635.5(KMT5B):c.2231G>A (p.Ser744Asn)
NM_017635.5(KMT5B):c.232T>C (p.Cys78Arg)
NM_017635.5(KMT5B):c.2348G>A (p.Arg783Gln)
NM_017635.5(KMT5B):c.2492C>A (p.Ser831Tyr)
NM_017635.5(KMT5B):c.2508_2510del (p.Glu838del)
NM_017635.5(KMT5B):c.2621G>A (p.Arg874Lys)
NM_017635.5(KMT5B):c.658C>T (p.Arg220Ter) rs1555028206
NM_017635.5(KMT5B):c.780_781del (p.Ala261fs) rs1565226076
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly) rs1555027828

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