ClinVar Miner

List of variants in gene GP1BA reported as uncertain significance by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000173.7(GP1BA):c.1232C>T (p.Pro411Leu) rs139921368 0.00059
NM_000173.7(GP1BA):c.1541G>A (p.Ser514Asn) rs368255522 0.00005
NM_000173.7(GP1BA):c.1349C>T (p.Pro450Leu) rs866547472
NM_000173.7(GP1BA):c.1453G>A (p.Val485Ile)
NM_000173.7(GP1BA):c.1579T>G (p.Cys527Gly)
NM_000173.7(GP1BA):c.308A>G (p.Asn103Ser) rs2151107775
NM_000173.7(GP1BA):c.325C>A (p.Pro109Thr) rs2151107783
NM_000173.7(GP1BA):c.334G>A (p.Gly112Arg) rs373756376
NM_000173.7(GP1BA):c.551T>A (p.Leu184Gln) rs2151107892
NM_000173.7(GP1BA):c.571G>A (p.Asp191Asn) rs779062552
NM_000173.7(GP1BA):c.662A>G (p.Asn221Ser) rs764443652
NM_000173.7(GP1BA):c.775G>C (p.Val259Leu)

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