ClinVar Miner

List of variants in gene GRIP1 reported as pathogenic for Fraser syndrome 3

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) rs397514486
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) rs2057189303
NM_001366722.1(GRIP1):c.2269+1G>C rs397514485
NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter) rs758192469

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