ClinVar Miner

List of variants in gene GP1BA reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000173.7(GP1BA):c.732C>T (p.Tyr244=) rs200381725 0.00102
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000173.7(GP1BA):c.1173C>T (p.Pro391=) rs369052917 0.00004
NM_000173.7(GP1BA):c.552G>C (p.Leu184=) rs753032168 0.00004
NM_000173.7(GP1BA):c.1305C>T (p.Thr435=) rs761456793
NM_000173.7(GP1BA):c.1305_1320del (p.Thr436fs) rs758041497
NM_000173.7(GP1BA):c.1305_1344delinsT (p.415SEPAPSPTTPEPT[2]) rs2151108385

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