ClinVar Miner

List of variants in gene ARMC2 reported as pathogenic by Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032131.6(ARMC2):c.1023+1G>A rs1562372417
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) rs1562381747
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) rs1562435988
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) rs1562436860
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) rs1562332833

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