ClinVar Miner

List of variants in gene PRX reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_181882.3(PRX):c.966G>T (p.Val322=) rs139544245 0.00042
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=) rs367876251 0.00017
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166 0.00004
NM_181882.3(PRX):c.286C>T (p.Leu96=) rs149325913 0.00004
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu) rs369949312 0.00004
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.840G>A (p.Pro280=) rs773272074 0.00003
NM_181882.3(PRX):c.847G>A (p.Val283Met) rs535087433 0.00003
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu) rs371887816 0.00002
NM_181882.3(PRX):c.3423G>A (p.Ala1141=) rs370800046 0.00002
NM_181882.3(PRX):c.1441G>T (p.Val481Leu) rs747179548 0.00001
NM_181882.3(PRX):c.1749T>G (p.Pro583=) rs1234792110 0.00001
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr) rs1179595016 0.00001
NM_181882.3(PRX):c.3440C>T (p.Pro1147Leu) rs748957380 0.00001
NM_181882.3(PRX):c.825C>T (p.Leu275=) rs753268672 0.00001
NM_181882.3(PRX):c.834G>A (p.Pro278=) rs759984063 0.00001
NM_181882.3(PRX):c.-211A>C
NM_181882.3(PRX):c.1569G>C (p.Leu523=)
NM_181882.3(PRX):c.164G>A (p.Arg55Lys) rs773586301
NM_181882.3(PRX):c.1863G>A (p.Val621=)
NM_181882.3(PRX):c.1875A>G (p.Lys625=)
NM_181882.3(PRX):c.1878C>G (p.Val626=)
NM_181882.3(PRX):c.1881A>T (p.Pro627=)
NM_181882.3(PRX):c.1890G>A (p.Lys630=)
NM_181882.3(PRX):c.1893C>T (p.Leu631=)
NM_181882.3(PRX):c.1914G>A (p.Glu638=)
NM_181882.3(PRX):c.1944T>C (p.Ala648=)
NM_181882.3(PRX):c.1953T>C (p.Asp651=)
NM_181882.3(PRX):c.2241G>A (p.Leu747=)
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg) rs111252437
NM_181882.3(PRX):c.2247A>T (p.Lys749Asn)
NM_181882.3(PRX):c.2400G>A (p.Lys800=) rs2079430394
NM_181882.3(PRX):c.2499del (p.Leu834fs)
NM_181882.3(PRX):c.2859A>G (p.Arg953=)
NM_181882.3(PRX):c.2913G>T (p.Val971=) rs1599652077
NM_181882.3(PRX):c.3001del (p.His1001fs)
NM_181882.3(PRX):c.3106G>A (p.Ala1036Thr) rs1599651692
NM_181882.3(PRX):c.3343del (p.Ala1115fs) rs1064797244
NM_181882.3(PRX):c.3558G>C (p.Gln1186His)
NM_181882.3(PRX):c.3606T>G (p.Gly1202=)
NM_181882.3(PRX):c.3766G>C (p.Val1256Leu) rs1599650451
NM_181882.3(PRX):c.381+24_381+39dup
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_181882.3(PRX):c.876C>G (p.Val292=)

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