List of variants reported as benign for congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome by Invitae

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)	rs334773	0.90803
NM_182916.3(TRNT1):c.948A>G (p.Ala316=)	rs1705805	0.73295
NM_182916.3(TRNT1):c.1056+11A>G	rs1669348	0.53660
NM_182916.3(TRNT1):c.68= (p.Pro23=)	rs334773	0.09197
NM_182916.3(TRNT1):c.444G>T (p.Ala148=)	rs41399044	0.03661
NM_182916.3(TRNT1):c.133C>T (p.Leu45=)	rs75033443	0.03301
NM_182916.3(TRNT1):c.231T>C (p.Asp77=)	rs114362638	0.00321
NM_182916.3(TRNT1):c.945C>T (p.Ile315=)	rs150742431	0.00100
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val)	rs149263693	0.00069
NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala)	rs183596892	0.00058
NM_182916.3(TRNT1):c.744T>C (p.Gly248=)	rs201105941	0.00004
NM_182916.3(TRNT1):c.105C>T (p.Pro35=)	rs368274081	0.00001
NM_182916.3(TRNT1):c.481+19dup
NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val)	rs1575035403
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)	rs527331900

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