ClinVar Miner

List of variants in gene PRF1 reported as likely benign for hemophagocytic syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_001083116.3(PRF1):c.*174T>C rs74513535 0.00966
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_001083116.3(PRF1):c.*366C>T rs139298157 0.00419
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_001083116.3(PRF1):c.240A>T (p.Leu80=) rs140752768 0.00074
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001083116.3(PRF1):c.1377C>T (p.Pro459=) rs2228019 0.00041
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) rs144926997 0.00035
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001083116.3(PRF1):c.489C>T (p.His163=) rs143546173 0.00026
NM_001083116.3(PRF1):c.945G>A (p.Leu315=) rs138159445 0.00026
NM_001083116.3(PRF1):c.1357G>A (p.Val453Met) rs141864315 0.00016
NM_001083116.3(PRF1):c.999C>T (p.Pro333=) rs140260618 0.00014
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001083116.3(PRF1):c.969G>A (p.Glu323=) rs774426204 0.00009
NM_001083116.3(PRF1):c.867G>A (p.Thr289=) rs745670464 0.00008
NM_001083116.3(PRF1):c.540-13T>C rs1025361023 0.00007
NM_001083116.3(PRF1):c.1036C>T (p.Leu346=) rs374261838 0.00006
NM_001083116.3(PRF1):c.15G>A (p.Leu5=) rs752644970 0.00006
NM_001083116.3(PRF1):c.189A>C (p.Thr63=) rs759983785 0.00006
NM_001083116.3(PRF1):c.540-4G>A rs778340926 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001083116.3(PRF1):c.990C>T (p.Asn330=) rs368769599 0.00006
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601 0.00005
NM_001083116.3(PRF1):c.756C>T (p.Asn252=) rs150053969 0.00005
NM_001083116.3(PRF1):c.1203G>A (p.Ala401=) rs748445504 0.00004
NM_001083116.3(PRF1):c.903G>A (p.Ser301=) rs763207236 0.00004
NM_001083116.3(PRF1):c.924C>T (p.His308=) rs771923778 0.00004
NM_001083116.3(PRF1):c.936C>T (p.Asn312=) rs749015711 0.00004
NM_001083116.3(PRF1):c.1038G>C (p.Leu346=) rs762946719 0.00003
NM_001083116.3(PRF1):c.1317G>A (p.Val439=) rs767189454 0.00003
NM_001083116.3(PRF1):c.180A>G (p.Pro60=) rs747004967 0.00003
NM_001083116.3(PRF1):c.624C>T (p.Thr208=) rs375086595 0.00003
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=) rs200167080 0.00002
NM_001083116.3(PRF1):c.273G>A (p.Ala91=) rs778821122 0.00002
NM_001083116.3(PRF1):c.540-12C>G rs770452852 0.00002
NM_001083116.3(PRF1):c.66G>A (p.Pro22=) rs901882400 0.00002
NM_001083116.3(PRF1):c.69C>T (p.Cys23=) rs761379626 0.00002
NM_001083116.3(PRF1):c.927C>T (p.Thr309=) rs142643493 0.00002
NM_001083116.3(PRF1):c.1047G>T (p.Leu349=) rs771218500 0.00001
NM_001083116.3(PRF1):c.1107G>A (p.Thr369=) rs145589960 0.00001
NM_001083116.3(PRF1):c.1249C>T (p.Leu417=) rs765787505 0.00001
NM_001083116.3(PRF1):c.1356C>T (p.Thr452=) rs765858178 0.00001
NM_001083116.3(PRF1):c.147C>T (p.Asp49=) rs761310644 0.00001
NM_001083116.3(PRF1):c.168G>A (p.Ser56=) rs376059674 0.00001
NM_001083116.3(PRF1):c.507C>T (p.Phe169=) rs757728832 0.00001
NM_001083116.3(PRF1):c.539+13G>A rs776317619 0.00001
NM_001083116.3(PRF1):c.585G>A (p.Arg195=) rs1417377281 0.00001
NM_001083116.3(PRF1):c.657C>T (p.Tyr219=) rs752608972 0.00001
NM_001083116.3(PRF1):c.687G>T (p.Leu229=) rs1477672027 0.00001
NM_001083116.3(PRF1):c.693C>T (p.Gly231=) rs777261222 0.00001
NM_001083116.3(PRF1):c.915C>T (p.Gly305=) rs769982593 0.00001
NM_001083116.3(PRF1):c.966C>T (p.Pro322=) rs535958677 0.00001
NM_001083116.3(PRF1):c.1002C>G (p.Gly334=)
NM_001083116.3(PRF1):c.1011C>T (p.Gly337=)
NM_001083116.3(PRF1):c.1023C>T (p.Tyr341=) rs1362072680
NM_001083116.3(PRF1):c.1027C>T (p.Leu343=) rs2132475900
NM_001083116.3(PRF1):c.1029G>A (p.Leu343=)
NM_001083116.3(PRF1):c.1053C>T (p.Asp351=)
NM_001083116.3(PRF1):c.1059G>A (p.Gln353=)
NM_001083116.3(PRF1):c.1065G>A (p.Pro355=)
NM_001083116.3(PRF1):c.1078C>T (p.Leu360=)
NM_001083116.3(PRF1):c.108G>A (p.Lys36=)
NM_001083116.3(PRF1):c.1092G>A (p.Leu364=)
NM_001083116.3(PRF1):c.1098G>A (p.Gln366=)
NM_001083116.3(PRF1):c.1101C>T (p.Tyr367=)
NM_001083116.3(PRF1):c.1113G>A (p.Arg371=) rs2132475717
NM_001083116.3(PRF1):c.1128C>T (p.Asp376=)
NM_001083116.3(PRF1):c.1134C>T (p.Ser378=)
NM_001083116.3(PRF1):c.1140G>T (p.Pro380=)
NM_001083116.3(PRF1):c.1146A>C (p.Pro382=)
NM_001083116.3(PRF1):c.1155G>A (p.Arg385=) rs751523638
NM_001083116.3(PRF1):c.1158G>A (p.Gln386=)
NM_001083116.3(PRF1):c.1161G>A (p.Lys387=) rs2132475597
NM_001083116.3(PRF1):c.1164C>T (p.Ser388=)
NM_001083116.3(PRF1):c.1188G>A (p.Val396=)
NM_001083116.3(PRF1):c.1194T>C (p.His398=)
NM_001083116.3(PRF1):c.1206C>T (p.Val402=)
NM_001083116.3(PRF1):c.1212C>T (p.Thr404=)
NM_001083116.3(PRF1):c.1230G>A (p.Arg410=)
NM_001083116.3(PRF1):c.1239C>T (p.Gly413=) rs1290273606
NM_001083116.3(PRF1):c.123A>C (p.Ala41=)
NM_001083116.3(PRF1):c.123A>G (p.Ala41=)
NM_001083116.3(PRF1):c.1260C>T (p.Thr420=)
NM_001083116.3(PRF1):c.1266C>T (p.Ile422=)
NM_001083116.3(PRF1):c.1287G>A (p.Gly429=)
NM_001083116.3(PRF1):c.1290C>T (p.Asp430=)
NM_001083116.3(PRF1):c.12T>C (p.Arg4=)
NM_001083116.3(PRF1):c.1323C>T (p.Leu441=)
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.132C>T (p.Ala44=)
NM_001083116.3(PRF1):c.1332T>G (p.Gly444=)
NM_001083116.3(PRF1):c.1347G>A (p.Arg449=) rs2132475246
NM_001083116.3(PRF1):c.1353C>T (p.Ser451=)
NM_001083116.3(PRF1):c.1389G>A (p.Val463=)
NM_001083116.3(PRF1):c.1390C>A (p.Arg464=)
NM_001083116.3(PRF1):c.1392G>A (p.Arg464=)
NM_001083116.3(PRF1):c.1398T>C (p.Asp466=)
NM_001083116.3(PRF1):c.1410G>C (p.Val470=)
NM_001083116.3(PRF1):c.1413C>G (p.Leu471=)
NM_001083116.3(PRF1):c.1428G>T (p.Gly476=)
NM_001083116.3(PRF1):c.1434G>A (p.Leu478=) rs2132475070
NM_001083116.3(PRF1):c.1440G>A (p.Leu480=)
NM_001083116.3(PRF1):c.1443G>A (p.Gln481=)
NM_001083116.3(PRF1):c.1446C>G (p.Val482=)
NM_001083116.3(PRF1):c.1470C>T (p.Asp490=)
NM_001083116.3(PRF1):c.1473T>C (p.Asp491=)
NM_001083116.3(PRF1):c.1512T>C (p.Gly504=)
NM_001083116.3(PRF1):c.1560C>G (p.Arg520=)
NM_001083116.3(PRF1):c.1566T>C (p.His522=)
NM_001083116.3(PRF1):c.1590A>C (p.Gly530=)
NM_001083116.3(PRF1):c.1602C>T (p.Cys534=)
NM_001083116.3(PRF1):c.1605G>C (p.Leu535=)
NM_001083116.3(PRF1):c.1611T>C (p.Tyr537=)
NM_001083116.3(PRF1):c.1626T>C (p.Leu542=) rs2132474821
NM_001083116.3(PRF1):c.1629G>A (p.Leu543=) rs767848717
NM_001083116.3(PRF1):c.1629G>C (p.Leu543=) rs767848717
NM_001083116.3(PRF1):c.1629G>T (p.Leu543=)
NM_001083116.3(PRF1):c.162C>A (p.Arg54=)
NM_001083116.3(PRF1):c.1650G>C (p.Arg550=) rs1483832689
NM_001083116.3(PRF1):c.1650G>T (p.Arg550=)
NM_001083116.3(PRF1):c.1659C>T (p.Ala553=)
NM_001083116.3(PRF1):c.165C>T (p.Arg55=)
NM_001083116.3(PRF1):c.171C>T (p.Gly57=)
NM_001083116.3(PRF1):c.195G>A (p.Arg65=)
NM_001083116.3(PRF1):c.202C>A (p.Arg68=)
NM_001083116.3(PRF1):c.204G>A (p.Arg68=)
NM_001083116.3(PRF1):c.207C>T (p.Pro69=)
NM_001083116.3(PRF1):c.210C>T (p.Asp70=) rs202134601
NM_001083116.3(PRF1):c.216C>A (p.Thr72=)
NM_001083116.3(PRF1):c.216C>T (p.Thr72=)
NM_001083116.3(PRF1):c.219C>T (p.Cys73=)
NM_001083116.3(PRF1):c.225C>T (p.Leu75=) rs2132478434
NM_001083116.3(PRF1):c.24G>T (p.Leu8=) rs1417778581
NM_001083116.3(PRF1):c.270G>C (p.Leu90=) rs2132478374
NM_001083116.3(PRF1):c.273G>T (p.Ala91=)
NM_001083116.3(PRF1):c.297C>T (p.Gly99=)
NM_001083116.3(PRF1):c.312C>T (p.Arg104=)
NM_001083116.3(PRF1):c.315T>C (p.His105=)
NM_001083116.3(PRF1):c.321C>T (p.Thr107=)
NM_001083116.3(PRF1):c.339C>T (p.Ser113=) rs2132478269
NM_001083116.3(PRF1):c.33T>C (p.Leu11=)
NM_001083116.3(PRF1):c.342T>C (p.Thr114=) rs776801201
NM_001083116.3(PRF1):c.342T>G (p.Thr114=)
NM_001083116.3(PRF1):c.348T>C (p.Ala116=)
NM_001083116.3(PRF1):c.366T>A (p.Ala122=)
NM_001083116.3(PRF1):c.366T>C (p.Ala122=)
NM_001083116.3(PRF1):c.369T>C (p.Arg123=) rs1848208866
NM_001083116.3(PRF1):c.36C>G (p.Leu12=)
NM_001083116.3(PRF1):c.36C>T (p.Leu12=)
NM_001083116.3(PRF1):c.378C>T (p.Arg126=)
NM_001083116.3(PRF1):c.381C>T (p.Asn127=)
NM_001083116.3(PRF1):c.393C>A (p.Val131=) rs374948681
NM_001083116.3(PRF1):c.393C>T (p.Val131=) rs374948681
NM_001083116.3(PRF1):c.402C>T (p.Asp134=) rs564234285
NM_001083116.3(PRF1):c.408T>G (p.Thr136=)
NM_001083116.3(PRF1):c.420C>A (p.Thr140=)
NM_001083116.3(PRF1):c.426T>C (p.Asn142=)
NM_001083116.3(PRF1):c.429G>A (p.Val143=)
NM_001083116.3(PRF1):c.429G>C (p.Val143=)
NM_001083116.3(PRF1):c.447C>T (p.Gly149=)
NM_001083116.3(PRF1):c.453C>T (p.His151=)
NM_001083116.3(PRF1):c.45G>A (p.Leu15=)
NM_001083116.3(PRF1):c.465C>A (p.Ala155=)
NM_001083116.3(PRF1):c.465C>T (p.Ala155=)
NM_001083116.3(PRF1):c.477C>G (p.Ala159=)
NM_001083116.3(PRF1):c.48C>T (p.Pro16=) rs2132478807
NM_001083116.3(PRF1):c.513T>C (p.Thr171=)
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.531C>T (p.Arg177=)
NM_001083116.3(PRF1):c.537C>T (p.Tyr179=)
NM_001083116.3(PRF1):c.539+14C>T
NM_001083116.3(PRF1):c.539+17G>A rs2132477847
NM_001083116.3(PRF1):c.539+8C>T rs1457993061
NM_001083116.3(PRF1):c.540-10C>T
NM_001083116.3(PRF1):c.540-11T>C
NM_001083116.3(PRF1):c.540-14C>T
NM_001083116.3(PRF1):c.540-18G>T
NM_001083116.3(PRF1):c.540-20A>G
NM_001083116.3(PRF1):c.540-5C>T
NM_001083116.3(PRF1):c.546T>C (p.His182=)
NM_001083116.3(PRF1):c.549G>A (p.Val183=)
NM_001083116.3(PRF1):c.54C>T (p.Pro18=)
NM_001083116.3(PRF1):c.552A>G (p.Val184=)
NM_001083116.3(PRF1):c.552A>T (p.Val184=) rs755282048
NM_001083116.3(PRF1):c.564G>A (p.Pro188=)
NM_001083116.3(PRF1):c.564G>T (p.Pro188=)
NM_001083116.3(PRF1):c.565C>T (p.Leu189=)
NM_001083116.3(PRF1):c.576C>T (p.Asp192=)
NM_001083116.3(PRF1):c.582G>A (p.Lys194=)
NM_001083116.3(PRF1):c.594G>A (p.Gly198=)
NM_001083116.3(PRF1):c.597C>T (p.Asp199=)
NM_001083116.3(PRF1):c.600G>A (p.Leu200=)
NM_001083116.3(PRF1):c.60T>C (p.Pro20=)
NM_001083116.3(PRF1):c.642G>A (p.Arg214=)
NM_001083116.3(PRF1):c.684G>A (p.Glu228=)
NM_001083116.3(PRF1):c.696C>T (p.Arg232=)
NM_001083116.3(PRF1):c.6A>G (p.Ala2=)
NM_001083116.3(PRF1):c.711T>C (p.Thr237=) rs748151937
NM_001083116.3(PRF1):c.717G>T (p.Leu239=)
NM_001083116.3(PRF1):c.720C>T (p.Arg240=)
NM_001083116.3(PRF1):c.723C>T (p.Thr241=)
NM_001083116.3(PRF1):c.732G>T (p.Leu244=)
NM_001083116.3(PRF1):c.738G>A (p.Leu246=)
NM_001083116.3(PRF1):c.747C>T (p.Leu249=)
NM_001083116.3(PRF1):c.750G>A (p.Thr250=)
NM_001083116.3(PRF1):c.75A>G (p.Thr25=)
NM_001083116.3(PRF1):c.762G>A (p.Val254=) rs2132476492
NM_001083116.3(PRF1):c.772C>T (p.Leu258=)
NM_001083116.3(PRF1):c.774G>A (p.Leu258=)
NM_001083116.3(PRF1):c.789G>A (p.Gln263=)
NM_001083116.3(PRF1):c.78C>G (p.Ala26=)
NM_001083116.3(PRF1):c.804C>T (p.Ile268=)
NM_001083116.3(PRF1):c.810C>T (p.Gly270=)
NM_001083116.3(PRF1):c.843G>A (p.Glu281=)
NM_001083116.3(PRF1):c.870C>G (p.Ala290=)
NM_001083116.3(PRF1):c.870C>T (p.Ala290=)
NM_001083116.3(PRF1):c.876C>T (p.Phe292=)
NM_001083116.3(PRF1):c.879C>T (p.His293=) rs1554867945
NM_001083116.3(PRF1):c.885C>T (p.Thr295=) rs757011029
NM_001083116.3(PRF1):c.894G>A (p.Glu298=) rs760042830
NM_001083116.3(PRF1):c.897C>G (p.Arg299=)
NM_001083116.3(PRF1):c.939C>T (p.Asp313=)
NM_001083116.3(PRF1):c.948C>T (p.Phe316=) rs201235771
NM_001083116.3(PRF1):c.954C>T (p.Ile318=)
NM_001083116.3(PRF1):c.957G>A (p.Gln319=)
NM_001083116.3(PRF1):c.960C>T (p.Ala320=)
NM_001083116.3(PRF1):c.966C>G (p.Pro322=)
NM_001083116.3(PRF1):c.993G>A (p.Ser331=) rs747803356
NM_001083116.3(PRF1):c.999C>G (p.Pro333=)

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