ClinVar Miner

List of variants studied for immunodeficiency-centromeric instability-facial anomalies syndrome by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys) rs35846833 0.00071
NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly) rs145020994 0.00015
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter) rs370370334 0.00002
NM_006892.4(DNMT3B):c.142+3G>A rs779770844 0.00001
NM_014797.3(ZBTB24):c.1280C>A (p.Thr427Lys) rs1776258723 0.00001
NM_014797.3(ZBTB24):c.1891C>G (p.Gln631Glu) rs1213062476 0.00001
NM_018063.5(HELLS):c.360A>G (p.Glu120=) rs780887609 0.00001
NM_014797.3(ZBTB24):c.1202C>T (p.Thr401Ile) rs1776274830

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