List of variants studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 1 by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)	rs121908943	0.00001
NM_006892.4(DNMT3B):c.2421-11G>A	rs547940069	0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)	rs121908946	0.00001
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser)	rs121908942
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly)	rs121908944
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly)	rs121908939
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)	rs121908940
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro)	rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter)	rs121908945

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