ClinVar Miner

List of variants in gene PRF1 reported by GeneDx

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.*96G>A rs1889490 0.51193
NM_001083116.3(PRF1):c.539+61G>A rs10999427 0.29334
NM_001083116.3(PRF1):c.539+82C>T rs10999426 0.22266
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.462A>G (p.Ala154=) rs116554195 0.01461
NM_001083116.3(PRF1):c.435G>A (p.Val145=) rs115281140 0.01056
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00674
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00090
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00074
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001083116.3(PRF1):c.1106C>T (p.Thr369Met) rs201584464 0.00029
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001083116.3(PRF1):c.1144C>T (p.Pro382Ser) rs377367451 0.00010
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00005
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.609C>A (p.His203Gln) rs772537976 0.00003
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001083116.3(PRF1):c.626A>C (p.Gln209Pro) rs146414576 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn) rs1455960914 0.00001
NM_001083116.3(PRF1):c.604C>T (p.His202Tyr) rs200332545 0.00001
NM_001083116.3(PRF1):c.610T>C (p.Phe204Leu) rs1178490253 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00001
NM_001083116.3(PRF1):c.937G>A (p.Asp313Asn) rs777299577 0.00001
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val) rs755737064 0.00001
NM_001083116.3(PRF1):c.*208_*209del rs34914326
NM_001083116.3(PRF1):c.*209del rs34914326
NM_001083116.3(PRF1):c.*89C>T rs6480459
NM_001083116.3(PRF1):c.1034C>G (p.Pro345Arg) rs28933374
NM_001083116.3(PRF1):c.1046T>G (p.Leu349Arg)
NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr) rs2493483298
NM_001083116.3(PRF1):c.1132A>T (p.Ser378Cys) rs1353198927
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.1490G>C (p.Cys497Ser) rs1848155727
NM_001083116.3(PRF1):c.217T>C (p.Cys73Arg) rs1848214400
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg) rs201382038
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly) rs142012387
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del) rs1564724291
NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter) rs1848174771

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