ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)

dbSNP: rs118203934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000967 SCV000021117 pathogenic Osteopetrosis with renal tubular acidosis 1995-01-01 no assertion criteria provided literature only

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