ClinVar Miner

List of variants in gene COG6 studied for not specified

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_020751.3(COG6):c.1947G>A (p.Pro649=) rs147311831 0.00069
NM_020751.3(COG6):c.370-18A>G rs184193902 0.00043
NM_020751.3(COG6):c.369+13G>A rs368677211 0.00042
NM_020751.3(COG6):c.-21_-20insC rs746938820 0.00041
NM_020751.3(COG6):c.1233A>G (p.Lys411=) rs201806513 0.00035
NM_020751.3(COG6):c.1075-12A>C rs370228676 0.00016
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.668A>G (p.Tyr223Cys) rs770529508 0.00002
NM_020751.3(COG6):c.315C>T (p.Ser105=) rs767854952 0.00001
GRCh37/hg19 13q14.11(chr13:40327812-40380478)
NM_020751.3(COG6):c.*3A>T rs371476957
NM_020751.3(COG6):c.-17dup rs67765306
NM_020751.3(COG6):c.-41G>C rs188328396
NM_020751.3(COG6):c.1284+19A>T rs1057524078
NM_020751.3(COG6):c.153+11C>A rs371609631
NM_020751.3(COG6):c.1693-13T>C rs1057521781
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.1826+14G>A rs1169729431
NM_020751.3(COG6):c.258C>T (p.Ile86=) rs1555273437
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978
NM_020751.3(COG6):c.917G>T (p.Arg306Met) rs1057518132

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