ClinVar Miner

List of variants in gene KMT2A, TTC36 studied for Wiedemann-Steiner syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.11072-1G>A
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter) rs1555050211
NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)
NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer) rs1555052879
NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)
NM_001197104.2(KMT2A):c.11388del (p.Asn3797fs) rs1950922313
NM_001197104.2(KMT2A):c.11514-2A>C rs2135292977
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser) rs1591311290
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu) rs1591312430
NM_001197104.2(KMT2A):c.11870del (p.Lys3957fs)

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