ClinVar Miner

List of variants in gene TCEAL1 reported as likely pathogenic for See cases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004780.3(TCEAL1):c.169del (p.Leu57fs) rs2147641837
NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter) rs2147641920
NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr) rs2147641927
NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs) rs2147641982
NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter) rs2147642131
Single allele

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