ClinVar Miner

List of variants in gene MYOC reported as pathogenic by ClinGen Glaucoma Variant Curation Expert Panel

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000261.2(MYOC):c.1130C>T (p.Thr377Met) rs566289099 0.00004
NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) rs74315334
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) rs74315330
NM_000261.2(MYOC):c.1139A>C (p.Asp380Ala) rs2102944632
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) rs74315338
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) rs74315328
NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) rs74315332

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