ClinVar Miner

List of variants in gene PRF1 reported as pathogenic by Baylor Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) rs578092914 0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) rs776571416 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter) rs760379846
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) rs193302876
NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter) rs1564723653
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs) rs774071705
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) rs104894180
NM_001083116.3(PRF1):c.1A>G (p.Met1Val) rs1848222357
NM_001083116.3(PRF1):c.207del (p.Asp70fs) rs786205093
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg) rs776571416
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)

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