ClinVar Miner

List of variants studied for Kabuki syndrome 1 by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_014727.3(KMT2B):c.7060G>A (p.Glu2354Lys) rs190929421 0.00022
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) rs1388599232 0.00002
NM_003482.4(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.5803-1G>A rs1555044700
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.14515+1G>T rs1555186232
NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs) rs1555185301
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.8366+1G>T rs1057518149

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