ClinVar Miner

List of variants in gene PRPF6 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_012469.4(PRPF6):c.-99C>G rs562369921 0.00187
NM_012469.4(PRPF6):c.-54C>T rs750275951 0.00123
NM_012469.4(PRPF6):c.1306-7C>T rs373810213 0.00053
NM_012469.4(PRPF6):c.438+15C>T rs371384048 0.00018
NM_012469.4(PRPF6):c.1164A>G (p.Ala388=) rs201984924 0.00016
NM_012469.4(PRPF6):c.1944C>T (p.Ala648=) rs151332876 0.00013
NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg) rs145731410 0.00013
NM_012469.4(PRPF6):c.2607G>A (p.Lys869=) rs201168471 0.00012
NM_012469.4(PRPF6):c.-82C>T rs534743637 0.00010
NM_012469.4(PRPF6):c.2349C>T (p.Ser783=) rs138601260 0.00010
NM_012469.4(PRPF6):c.61C>T (p.Leu21=) rs775751428 0.00010
NM_012469.4(PRPF6):c.1305+11C>T rs190123178 0.00009
NM_012469.4(PRPF6):c.2425A>G (p.Asn809Asp) rs373071691 0.00009
NM_012469.4(PRPF6):c.-53C>T rs977850122 0.00008
NM_012469.4(PRPF6):c.2688G>T (p.Glu896Asp) rs140112205 0.00006
NM_012469.4(PRPF6):c.616-7C>T rs368728762 0.00006
NM_012469.4(PRPF6):c.*27G>A rs373166087 0.00004
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val) rs149771221 0.00004
NM_012469.4(PRPF6):c.616-10T>G rs376559986 0.00004
NM_012469.4(PRPF6):c.-83A>G rs527686294 0.00003
NM_012469.4(PRPF6):c.867-6T>C rs200951432 0.00003
NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr) rs771734100 0.00002
NM_012469.4(PRPF6):c.845C>T (p.Pro282Leu) rs377270235 0.00002
NM_012469.4(PRPF6):c.-86C>T rs886056958 0.00001
NM_012469.4(PRPF6):c.1103A>G (p.His368Arg) rs886056960 0.00001
NM_012469.4(PRPF6):c.1231G>A (p.Val411Ile) rs771579599 0.00001
NM_012469.4(PRPF6):c.2028+5G>A rs773257613 0.00001
NM_012469.4(PRPF6):c.2077G>T (p.Ala693Ser) rs1464814132 0.00001
NM_012469.4(PRPF6):c.2107C>T (p.Arg703Trp) rs754149863 0.00001
NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn) rs765346207 0.00001
NM_012469.4(PRPF6):c.2756T>C (p.Ile919Thr) rs773239629 0.00001
NM_012469.4(PRPF6):c.282C>T (p.Tyr94=) rs758722968 0.00001
NM_012469.4(PRPF6):c.439-4C>T rs371780214 0.00001
NM_012469.4(PRPF6):c.*1T>C rs1167495795
NM_012469.4(PRPF6):c.-107A>G rs2059063858
NM_012469.4(PRPF6):c.-89C>T rs886056957
NM_012469.4(PRPF6):c.1100G>A (p.Arg367His) rs886056959
NM_012469.4(PRPF6):c.1159C>T (p.Arg387Cys)
NM_012469.4(PRPF6):c.1186+13C>G rs376567998
NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr) rs952267888
NM_012469.4(PRPF6):c.1337A>G (p.Tyr446Cys)
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala) rs2059216772
NM_012469.4(PRPF6):c.1656C>G (p.Ala552=)
NM_012469.4(PRPF6):c.1769+8G>A rs1021327099
NM_012469.4(PRPF6):c.2282G>A (p.Arg761Gln)
NM_012469.4(PRPF6):c.2313_2321dup (p.772_774KNP[3]) rs2059297242
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr) rs1037019727
NM_012469.4(PRPF6):c.2673+12C>G rs374801637
NM_012469.4(PRPF6):c.279C>T (p.Pro93=) rs2059086886
NM_012469.4(PRPF6):c.351A>G (p.Lys117=) rs2059087198
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) rs369787039
NM_012469.4(PRPF6):c.515G>A (p.Arg172Gln) rs2059135002
NM_012469.4(PRPF6):c.538A>C (p.Thr180Pro)
NM_012469.4(PRPF6):c.541C>G (p.Pro181Ala) rs770072579
NM_012469.4(PRPF6):c.576G>C (p.Gln192His) rs2059135246
NM_012469.4(PRPF6):c.57G>A (p.Pro19=) rs779283679
NM_012469.4(PRPF6):c.614C>G (p.Thr205Ser)

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