ClinVar Miner

List of variants in gene POC1B reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_172240.3(POC1B):c.810+1G>T rs587777694 0.00006
NM_172240.3(POC1B):c.1079_1080del (p.Pro360fs) rs774472777 0.00005
NM_172240.3(POC1B):c.179A>G (p.Lys60Arg) rs768855674 0.00002
NM_172240.3(POC1B):c.404G>A (p.Arg135His) rs149976035 0.00002
NM_172240.3(POC1B):c.718G>T (p.Gly240Cys) rs1219460585 0.00002
NM_172240.3(POC1B):c.1279G>A (p.Ala427Thr) rs777371599 0.00001
NM_172240.3(POC1B):c.592G>A (p.Gly198Ser) rs759047892 0.00001
NM_172240.3(POC1B):c.1214C>T (p.Thr405Ile)
NM_172240.3(POC1B):c.317G>A (p.Arg106Gln) rs76216585
NM_172240.3(POC1B):c.383T>A (p.Val128Glu) rs769379747
NM_172240.3(POC1B):c.541A>G (p.Asn181Asp)
NM_172240.3(POC1B):c.879+2T>G
NM_172240.3(POC1B):c.907G>A (p.Glu303Lys) rs776033960
NM_172240.3(POC1B):c.979G>C (p.Asp327His)

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