ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287

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