ClinVar Miner

List of variants in gene POC5 reported as benign for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001099271.2(POC5):c.107A>G (p.His36Arg) rs2307111 0.55170
NM_001099271.2(POC5):c.1129+19T>A rs17563686 0.24336
NM_001099271.2(POC5):c.513+4C>T rs17649248 0.16755
NM_001099271.2(POC5):c.1130-13T>A rs17563610 0.16640
NM_001099271.2(POC5):c.691-11G>A rs888788 0.16631
NM_001099271.2(POC5):c.254T>C (p.Ile85Thr) rs17672542 0.11736
NM_001099271.2(POC5):c.345C>T (p.His115=) rs35130836 0.07582
NM_001099271.2(POC5):c.246A>T (p.Glu82Asp) rs77025299 0.05327
NM_001099271.2(POC5):c.337C>T (p.Pro113Ser) rs79392300 0.00913
NM_001099271.2(POC5):c.1286C>T (p.Ala429Val) rs146984380 0.00682
NM_001099271.2(POC5):c.978A>G (p.Leu326=) rs200083165 0.00279
NM_001099271.2(POC5):c.84+3A>C rs150060329 0.00183
NM_001099271.2(POC5):c.84+9A>C rs184621511 0.00116
NM_001099271.2(POC5):c.468T>C (p.Leu156=) rs79645384 0.00102
NM_001099271.2(POC5):c.456T>G (p.Ser152=) rs200326445 0.00061
NM_001099271.2(POC5):c.773G>C (p.Gly258Ala) rs199672372 0.00039
NM_001099271.2(POC5):c.126A>G (p.Pro42=) rs199744659 0.00033
NM_001099271.2(POC5):c.74C>T (p.Ser25Leu) rs537446197 0.00001
NM_001099271.2(POC5):c.1272C>T (p.Val424=) rs35898774
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr) rs34678567
NM_001099271.2(POC5):c.1408-9del
NM_001099271.2(POC5):c.307+11del
NM_001099271.2(POC5):c.84+11del

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