List of variants reported as benign for immunodeficiency-centromeric instability-facial anomalies syndrome by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_031942.5(CDCA7):c.622-128C>T	rs4972555	0.83121
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=)	rs6058891	0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=)	rs2424922	0.59732
NM_006892.4(DNMT3B):c.1906-5T>C	rs2424928	0.58051
NM_006892.4(DNMT3B):c.1760-5C>G	rs1997797	0.55509
NM_018063.5(HELLS):c.31+20T>C	rs10882474	0.47048
NM_018063.5(HELLS):c.231A>C (p.Ile77=)	rs11188019	0.45728
NM_006892.4(DNMT3B):c.1252+13T>G	rs910085	0.42898
NM_031942.5(CDCA7):c.895-27C>G	rs2288993

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