List of variants reported as benign for Immunodeficiency-centromeric instability-facial anomalies syndrome 2 by Invitae

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_014797.3(ZBTB24):c.1552G>A (p.Ala518Thr)	rs2232448	0.08337
NM_014797.3(ZBTB24):c.1701C>T (p.Pro567=)	rs2232449	0.02940
NM_014797.3(ZBTB24):c.579G>A (p.Gln193=)	rs2227263	0.02261
NM_014797.3(ZBTB24):c.1389C>G (p.Ser463=)	rs2232447	0.01949
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)	rs147441359	0.00624
NM_014797.3(ZBTB24):c.1672G>A (p.Asp558Asn)	rs61731736	0.00233
NM_014797.3(ZBTB24):c.783C>T (p.Ser261=)	rs141440344	0.00081
NM_014797.3(ZBTB24):c.2070G>A (p.Thr690=)	rs148353968	0.00076
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)	rs142830104	0.00057
NM_014797.3(ZBTB24):c.1370+15A>T	rs2232445	0.00056
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu)	rs192918926	0.00037
NM_014797.3(ZBTB24):c.1204+5G>A	rs80351559	0.00029
NM_014797.3(ZBTB24):c.268C>T (p.Leu90=)	rs779928437	0.00011
NM_014797.3(ZBTB24):c.1746A>G (p.Gln582=)	rs755334302	0.00001
NM_014797.3(ZBTB24):c.1121-15del
NM_014797.3(ZBTB24):c.1121-6dup
NM_014797.3(ZBTB24):c.1205-15dup
NM_014797.3(ZBTB24):c.1289-3del
NM_014797.3(ZBTB24):c.1289-3dup
NM_014797.3(ZBTB24):c.953-20T>A	rs117893130

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