ClinVar Miner

List of variants studied for Cone-rod dystrophy 20 by Fulgent Genetics, Fulgent Genetics

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_172240.3(POC1B):c.10G>A (p.Ala4Thr) rs199806871 0.00032
NM_172240.3(POC1B):c.403C>T (p.Arg135Cys) rs147661585 0.00021
NM_172240.3(POC1B):c.1259G>C (p.Ser420Thr) rs201071027 0.00015
NM_172240.3(POC1B):c.1113+13_1113+14insG rs781147961 0.00009
NM_172240.3(POC1B):c.1202G>A (p.Cys401Tyr) rs138358967 0.00009
NM_172240.3(POC1B):c.1285A>G (p.Thr429Ala) rs553428980 0.00008
NM_172240.3(POC1B):c.1033-3C>T rs369151825 0.00005
NM_172240.3(POC1B):c.1216A>T (p.Thr406Ser) rs774341328 0.00005
NM_172240.3(POC1B):c.810+1G>T rs587777694 0.00005
NM_172240.3(POC1B):c.424C>T (p.Arg142Ter) rs756143769 0.00004
NM_172240.3(POC1B):c.1012G>A (p.Glu338Lys) rs767863964 0.00003
NM_172240.3(POC1B):c.460C>T (p.Pro154Ser) rs199977729 0.00003
NM_172240.3(POC1B):c.1006C>A (p.His336Asn) rs139226294 0.00002
NM_172240.3(POC1B):c.101-3T>G rs750116711 0.00002
NM_172240.3(POC1B):c.179A>G (p.Lys60Arg) rs768855674 0.00002
NM_172240.3(POC1B):c.433C>T (p.His145Tyr) rs1051765356 0.00002
NM_172240.3(POC1B):c.802G>A (p.Gly268Arg) rs778224641 0.00002
NM_172240.3(POC1B):c.1032+4A>G rs759980932 0.00001
NM_172240.3(POC1B):c.1057G>A (p.Asp353Asn) rs768381792 0.00001
NM_172240.3(POC1B):c.1217C>T (p.Thr406Met) rs770860408 0.00001
NM_172240.3(POC1B):c.1238T>C (p.Met413Thr) rs768581613 0.00001
NM_172240.3(POC1B):c.1239G>A (p.Met413Ile) rs747299500 0.00001
NM_172240.3(POC1B):c.1425A>C (p.Gln475His) rs759665142 0.00001
NM_172240.3(POC1B):c.250G>A (p.Val84Met) rs201760623 0.00001
NM_172240.3(POC1B):c.344A>G (p.Gln115Arg) rs571118434 0.00001
NM_172240.3(POC1B):c.46G>A (p.Gly16Ser) rs780295968 0.00001
NM_172240.3(POC1B):c.523A>G (p.Asn175Asp) rs910777225 0.00001
NM_172240.3(POC1B):c.654C>G (p.Asn218Lys) rs368667227 0.00001
NM_172240.3(POC1B):c.676+1G>A rs909373397 0.00001
NM_172240.3(POC1B):c.923G>A (p.Gly308Asp) rs746318136 0.00001
NM_172240.3(POC1B):c.1032+1G>A
NM_172240.3(POC1B):c.1054del (p.Ile352fs)
NM_172240.3(POC1B):c.1124C>G (p.Thr375Ser)
NM_172240.3(POC1B):c.1185C>T (p.Ser395=)
NM_172240.3(POC1B):c.1214C>T (p.Thr405Ile)
NM_172240.3(POC1B):c.1228A>G (p.Thr410Ala)
NM_172240.3(POC1B):c.132A>T (p.Leu44=) rs942901561
NM_172240.3(POC1B):c.1334C>T (p.Thr445Ile)
NM_172240.3(POC1B):c.1351C>G (p.Gln451Glu)
NM_172240.3(POC1B):c.1366A>G (p.Thr456Ala)
NM_172240.3(POC1B):c.1383A>T (p.Lys461Asn)
NM_172240.3(POC1B):c.15+5G>C
NM_172240.3(POC1B):c.193A>T (p.Ser65Cys)
NM_172240.3(POC1B):c.227C>T (p.Ala76Val)
NM_172240.3(POC1B):c.239G>A (p.Arg80Gln)
NM_172240.3(POC1B):c.254G>A (p.Arg85Lys) rs779703981
NM_172240.3(POC1B):c.287C>T (p.Ser96Leu)
NM_172240.3(POC1B):c.304A>G (p.Thr102Ala)
NM_172240.3(POC1B):c.311C>T (p.Pro104Leu)
NM_172240.3(POC1B):c.317G>T (p.Arg106Leu)
NM_172240.3(POC1B):c.325G>A (p.Asp109Asn) rs753857035
NM_172240.3(POC1B):c.382G>C (p.Val128Leu)
NM_172240.3(POC1B):c.398G>C (p.Arg133Pro)
NM_172240.3(POC1B):c.434A>G (p.His145Arg)
NM_172240.3(POC1B):c.453-7_453-2del rs1882929478
NM_172240.3(POC1B):c.47G>T (p.Gly16Val)
NM_172240.3(POC1B):c.494A>G (p.Asp165Gly)
NM_172240.3(POC1B):c.686G>T (p.Gly229Val)
NM_172240.3(POC1B):c.716C>T (p.Ser239Leu) rs375108937
NM_172240.3(POC1B):c.750dup (p.Thr251fs)
NM_172240.3(POC1B):c.76C>G (p.Leu26Val)
NM_172240.3(POC1B):c.814C>T (p.Pro272Ser)
NM_172240.3(POC1B):c.88G>A (p.Gly30Ser) rs1456154895
NM_172240.3(POC1B):c.896C>T (p.Thr299Ile)
NM_172240.3(POC1B):c.8C>T (p.Ser3Leu)
NM_172240.3(POC1B):c.922G>C (p.Gly308Arg)
NM_172240.3(POC1B):c.950T>C (p.Leu317Ser)

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