ClinVar Miner

List of variants in gene PRF1 reported as likely pathogenic for lymphatic system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001083116.3(PRF1):c.163C>T (p.Arg55Cys) rs201032696 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.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
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.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 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.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro) rs1848169364
NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly) rs1060499556
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)
NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)
NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg) rs2132475562
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)
NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)
NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)
NM_001083116.3(PRF1):c.1A>G (p.Met1Val) rs1848222357
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
NM_001083116.3(PRF1):c.218G>C (p.Cys73Ser)
NM_001083116.3(PRF1):c.242del (p.Gln81fs)
NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter) rs1589233357
NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)
NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)
NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)
NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)
NM_001083116.3(PRF1):c.577T>C (p.Phe193Leu)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)
NM_001083116.3(PRF1):c.769T>G (p.Cys257Gly) rs2132476466
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del) rs1564724291
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)
NM_001083116.3(PRF1):c.963del (p.Glu323fs) rs2132476029
NM_001083116.3(PRF1):c.985dup (p.Val329fs) rs1848171715

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