ClinVar Miner

List of variants in gene GRM6, ZNF454 studied for GRM6-related retinopathy

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000843.4(GRM6):c.1308T>C (p.Thr436=) rs4701014 0.98353
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246 0.74455
NM_000843.4(GRM6):c.1500+23A>G rs2256966 0.57932
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675 0.57251
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011 0.50613
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_000843.4(GRM6):c.2196G>A (p.Thr732=) rs2071247 0.18181
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) rs5019554 0.00766
NM_000843.4(GRM6):c.1533C>T (p.His511=) rs61733043 0.00512
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00277
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
NM_000843.4(GRM6):c.1537G>A (p.Val513Met) rs201396068 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208 0.00004
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter) rs764476239
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp) rs144657366
NM_000843.4(GRM6):c.2066del (p.Pro689fs) rs755967391
NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)

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