ClinVar Miner

List of variants in gene FLVCR1 reported as pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.1547G>A (p.Arg516Gln) rs780752648 0.00002
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter) rs746482522 0.00002
NM_014053.4(FLVCR1):c.1169T>G (p.Leu390Ter) rs1558118957 0.00001
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) rs899735028 0.00001
NC_000001.10:g.(?_213031795)_(213037231_?)del
NC_000001.10:g.(?_213046000)_(213046180_?)del
NC_000001.10:g.(?_213058615)_(213058758_?)del
NC_000001.10:g.(?_213061213)_(213062619_?)del
NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)
NM_014053.4(FLVCR1):c.1093-1G>A rs1057520666
NM_014053.4(FLVCR1):c.1194C>A (p.Tyr398Ter)
NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter) rs1315527384
NM_014053.4(FLVCR1):c.1291dup (p.Thr431fs) rs2102568882
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.1377dup (p.Gly460fs) rs751415272
NM_014053.4(FLVCR1):c.1427del (p.Leu476fs)
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.1482C>A (p.Asn494Lys) rs1665130400
NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs) rs2102570274
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
NM_014053.4(FLVCR1):c.28del (p.Ala10fs) rs992883082
NM_014053.4(FLVCR1):c.561_656del (p.Ala188_Gly219del) rs1664132167
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014053.4(FLVCR1):c.835del (p.Tyr279fs) rs2102536359
NM_014053.4(FLVCR1):c.947del (p.Pro316fs) rs2102551463
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968

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