ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs)

dbSNP: rs2101121827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017274 SCV000037546 pathogenic Achromatopsia 4 2002-09-01 no assertion criteria provided literature only

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