ClinVar Miner

List of variants in gene PRPF6 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_012469.4(PRPF6):c.2431+15C>T rs41278240 0.14735
NM_012469.4(PRPF6):c.*19C>T rs7550 0.12217
NM_012469.4(PRPF6):c.1209G>A (p.Ser403=) rs2427588 0.06355
NM_012469.4(PRPF6):c.-25C>T rs45558633 0.03237
NM_012469.4(PRPF6):c.*7G>A rs114637353 0.01901
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309 0.01415
NM_012469.4(PRPF6):c.-79C>T rs114227570 0.01256
NM_012469.4(PRPF6):c.1239G>A (p.Leu413=) rs41278236 0.01231
NM_012469.4(PRPF6):c.1449G>A (p.Val483=) rs111366685 0.01057
NM_012469.4(PRPF6):c.2340-11T>C rs113298469 0.00784
NM_012469.4(PRPF6):c.-75G>A rs180973296 0.00586
NM_012469.4(PRPF6):c.2460C>T (p.Leu820=) rs61736635 0.00481
NM_012469.4(PRPF6):c.615+11A>G rs6011250 0.00286
NM_012469.4(PRPF6):c.-99C>G rs562369921 0.00187
NM_012469.4(PRPF6):c.2328C>T (p.Asn776=) rs61736634 0.00173
NM_012469.4(PRPF6):c.-78G>A rs189115287 0.00172
NM_012469.4(PRPF6):c.-54C>T rs750275951 0.00123
NM_012469.4(PRPF6):c.1137C>T (p.Ala379=) rs149287029 0.00111
NM_012469.4(PRPF6):c.2743G>A (p.Val915Met) rs139778757 0.00105
NM_012469.4(PRPF6):c.891C>T (p.Leu297=) rs41278234 0.00092
NM_012469.4(PRPF6):c.2546+15C>T rs200759872 0.00066
NM_012469.4(PRPF6):c.801C>T (p.Val267=) rs138336365 0.00063
NM_012469.4(PRPF6):c.1306-7C>T rs373810213 0.00053
NM_012469.4(PRPF6):c.42C>T (p.Pro14=) rs186249212 0.00041
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.1186+13C>T rs376567998 0.00005
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.2496T>C (p.Asp832=) rs190821097 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.-86C>T rs886056958 0.00001
NM_012469.4(PRPF6):c.1103A>G (p.His368Arg) rs886056960 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.1186+13C>G rs376567998
NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr) rs952267888
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala) rs2059216772
NM_012469.4(PRPF6):c.1769+8G>A rs1021327099
NM_012469.4(PRPF6):c.2185C>T (p.Arg729Trp) rs387907100
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.2822_2824del (p.Phe941del) rs747812103
NM_012469.4(PRPF6):c.351A>G (p.Lys117=) rs2059087198
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) rs527236096
NM_012469.4(PRPF6):c.576G>C (p.Gln192His) rs2059135246
NM_012469.4(PRPF6):c.57G>A (p.Pro19=) rs779283679

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