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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.10217C>G (p.Ser3406Ter)	rs886039658
NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys)	rs2031759596
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	rs869312824
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)	rs587784412
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_152564.5(VPS13B):c.1950C>A (p.Cys650Ter)	rs1810830776

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