ClinVar Miner

List of variants in gene TECPR2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val) rs201704673 0.00012
NM_014844.5(TECPR2):c.815C>T (p.Pro272Leu) rs756747141 0.00001
NM_014844.5(TECPR2):c.1249G>A (p.Asp417Asn)
NM_014844.5(TECPR2):c.1417+3A>G rs2139727319
NM_014844.5(TECPR2):c.3148G>A (p.Val1050Met) rs2139751290
NM_014844.5(TECPR2):c.4017C>T (p.Val1339=)

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