ClinVar Miner

Submissions for variant NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter)

gnomAD frequency: 0.00013  dbSNP: rs200190472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023333 SCV000044624 affects Blood group, Junior system 2012-01-15 no assertion criteria provided literature only

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