ClinVar Miner

List of variants reported as likely pathogenic for Glaucoma of childhood by ClinGen Glaucoma Variant Curation Expert Panel

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000261.2(MYOC):c.1150G>A (p.Asp384Asn) rs1652918497 0.00001
NM_000261.2(MYOC):c.1021T>C (p.Ser341Pro) rs1572210748
NM_000261.2(MYOC):c.1087G>A (p.Ala363Thr) rs2102944665
NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) rs121909193
NM_000261.2(MYOC):c.1100_1103delinsT (p.Gly367_Gln368delinsVal) rs2102944655
NM_000261.2(MYOC):c.1138G>C (p.Asp380His) rs121909194
NM_000261.2(MYOC):c.1187_1189dup (p.Glu396dup) rs2102944606
NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) rs74315336
NM_000261.2(MYOC):c.1276G>T (p.Val426Phe) rs2102944566
NM_000261.2(MYOC):c.1313C>T (p.Thr438Ile)
NM_000261.2(MYOC):c.1348A>T (p.Asn450Tyr)
NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) rs74315331
NM_000261.2(MYOC):c.1440C>G (p.Asn480Lys) rs74315332
NM_000261.2(MYOC):c.1442C>T (p.Pro481Leu) rs2102944466
NM_000261.2(MYOC):c.1495A>T (p.Ile499Phe) rs2102944440
NM_000261.2(MYOC):c.736G>A (p.Gly246Arg) rs2102944873
NM_000261.2(MYOC):c.752T>C (p.Val251Ala) rs2102944863
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) rs74315341
NM_000261.2(MYOC):c.761C>T (p.Pro254Leu) rs2102944853
NM_000261.2(MYOC):c.967G>A (p.Glu323Lys) rs1652924886
NM_000261.2(MYOC):c.976G>C (p.Gly326Arg) rs1447891498

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