ClinVar Miner

List of variants reported as pathogenic by Department of Pediatrics, Samsung Medical Center, Samsung Medical Center

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Total variants: 13
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)
GRCh37/hg19 2q23.1(chr2:148710290-149021799)
GRCh37/hg19 2q24.3(chr2:166340583-166904859)
GRCh37/hg19 6q25.3(chr6:157075546-157443054)
GRCh37/hg19 7q11.22(chr7:69404786-70206198)
GRCh37/hg19 9q34.3(chr9:138225001-141015001)
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458)
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) rs1555710223
NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) rs1949984655
NM_001429.4(EP300):c.1453del (p.Gln485fs) rs2058919680
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) rs1943461045
NM_015338.6(ASXL1):c.3115C>T (p.Gln1039Ter) rs1221031683
NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter) rs1815354949

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