ClinVar Miner

List of variants in gene ITPRIPL1

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001008949.3(ITPRIPL1):c.276G>C (p.Met92Ile) rs139144754 0.00070
NM_001008949.3(ITPRIPL1):c.967C>T (p.Arg323Trp) rs145512131 0.00030
NM_001008949.3(ITPRIPL1):c.1078C>T (p.Arg360Cys) rs150179821 0.00023
NM_001008949.3(ITPRIPL1):c.848T>C (p.Leu283Pro) rs373690388 0.00012
NM_001008949.3(ITPRIPL1):c.387G>C (p.Gln129His) rs373383337 0.00011
NM_001008949.3(ITPRIPL1):c.1245G>C (p.Glu415Asp) rs568942457 0.00009
NM_001008949.3(ITPRIPL1):c.151G>A (p.Glu51Lys) rs200845313 0.00009
NM_001008949.3(ITPRIPL1):c.1015T>C (p.Phe339Leu) rs377205927 0.00008
NM_001008949.3(ITPRIPL1):c.782G>A (p.Arg261His) rs775076082 0.00008
NM_001008949.3(ITPRIPL1):c.743T>C (p.Met248Thr) rs368978120 0.00007
NM_001008949.3(ITPRIPL1):c.1006A>G (p.Lys336Glu) rs149157551 0.00004
NM_001008949.3(ITPRIPL1):c.1190C>T (p.Ser397Phe) rs772023375 0.00003
NM_001008949.3(ITPRIPL1):c.125G>A (p.Arg42Gln) rs761114000 0.00003
NM_001008949.3(ITPRIPL1):c.766C>T (p.Pro256Ser) rs770605264 0.00003
NM_001008949.3(ITPRIPL1):c.811T>C (p.Cys271Arg) rs150502063 0.00003
NM_001008949.3(ITPRIPL1):c.826G>A (p.Glu276Lys) rs568851903 0.00003
NM_001008949.3(ITPRIPL1):c.968G>A (p.Arg323Gln) rs757355915 0.00003
NM_001008949.3(ITPRIPL1):c.1448G>A (p.Arg483His) rs555956819 0.00002
NM_001008949.3(ITPRIPL1):c.427G>A (p.Glu143Lys) rs767365703 0.00002
NM_001008949.3(ITPRIPL1):c.779G>A (p.Arg260His) rs765298570 0.00002
NM_001008949.3(ITPRIPL1):c.1095C>G (p.His365Gln) rs1246294256 0.00001
NM_001008949.3(ITPRIPL1):c.1115G>A (p.Arg372Gln) rs770603089 0.00001
NM_001008949.3(ITPRIPL1):c.1202G>C (p.Cys401Ser) rs371232545 0.00001
NM_001008949.3(ITPRIPL1):c.1231C>T (p.Arg411Cys) rs746646034 0.00001
NM_001008949.3(ITPRIPL1):c.1232G>A (p.Arg411His) rs768421706 0.00001
NM_001008949.3(ITPRIPL1):c.1249A>T (p.Thr417Ser) rs758269052 0.00001
NM_001008949.3(ITPRIPL1):c.1484T>C (p.Ile495Thr) rs769978362 0.00001
NM_001008949.3(ITPRIPL1):c.1017T>G (p.Phe339Leu) rs2467396794
NM_001008949.3(ITPRIPL1):c.1066T>C (p.Tyr356His)
NM_001008949.3(ITPRIPL1):c.1070G>A (p.Arg357His) rs371550518
NM_001008949.3(ITPRIPL1):c.1070G>C (p.Arg357Pro) rs371550518
NM_001008949.3(ITPRIPL1):c.1258C>G (p.Leu420Val) rs2467398237
NM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr) rs193921120
NM_001008949.3(ITPRIPL1):c.1402A>G (p.Asn468Asp)
NM_001008949.3(ITPRIPL1):c.1418G>A (p.Arg473Gln)
NM_001008949.3(ITPRIPL1):c.1433T>C (p.Leu478Pro)
NM_001008949.3(ITPRIPL1):c.1444G>A (p.Gly482Ser)
NM_001008949.3(ITPRIPL1):c.1471C>T (p.His491Tyr) rs2064134442
NM_001008949.3(ITPRIPL1):c.1487G>A (p.Gly496Asp)
NM_001008949.3(ITPRIPL1):c.167A>C (p.Glu56Ala) rs1385911860
NM_001008949.3(ITPRIPL1):c.194C>A (p.Ala65Asp) rs1490881818
NM_001008949.3(ITPRIPL1):c.206G>C (p.Arg69Thr) rs2467392619
NM_001008949.3(ITPRIPL1):c.245G>A (p.Ser82Asn)
NM_001008949.3(ITPRIPL1):c.367G>A (p.Val123Ile)
NM_001008949.3(ITPRIPL1):c.418A>C (p.Ser140Arg)
NM_001008949.3(ITPRIPL1):c.438G>C (p.Glu146Asp)
NM_001008949.3(ITPRIPL1):c.446G>A (p.Arg149His)
NM_001008949.3(ITPRIPL1):c.484T>G (p.Phe162Val)
NM_001008949.3(ITPRIPL1):c.487C>T (p.Pro163Ser)
NM_001008949.3(ITPRIPL1):c.545A>C (p.Asp182Ala)
NM_001008949.3(ITPRIPL1):c.62A>G (p.Tyr21Cys)
NM_001008949.3(ITPRIPL1):c.667T>C (p.Phe223Leu)
NM_001008949.3(ITPRIPL1):c.718C>G (p.Pro240Ala) rs2467395164
NM_001008949.3(ITPRIPL1):c.824G>A (p.Arg275His)
NM_001008949.3(ITPRIPL1):c.925A>G (p.Thr309Ala)
NM_001008949.3(ITPRIPL1):c.928G>A (p.Gly310Ser)
NM_001008949.3(ITPRIPL1):c.949A>C (p.Lys317Gln)
NM_001008949.3(ITPRIPL1):c.975G>C (p.Met325Ile)
NM_001008949.3(ITPRIPL1):c.998T>C (p.Val333Ala)

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