ClinVar Miner

List of variants studied for nonarteritic anterior ischemic optic neuropathy, susceptibility to

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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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.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000173.7(GP1BA):c.1272GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC[3] (p.Thr453_Pro454insSerGluProAlaProSerProThrThrProGluProThrSerGluProAlaProSerProThrThrProGluProThr)

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