ClinVar Miner

List of variants in gene FLVCR1 reported as likely pathogenic

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Total variants: 22
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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.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter) rs746482522 0.00002
NC_000001.10:g.(?_213056693)_(213058758_?)dup
NM_014053.4(FLVCR1):c.1093-12_1095del rs2102565547
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) rs1665113651
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
NM_014053.4(FLVCR1):c.1554_1555del (p.His518fs) rs777543198
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs) rs748989557
NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer) rs1572031494
NM_014053.4(FLVCR1):c.1593+5_1593+8del rs771159212
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014053.4(FLVCR1):c.539del (p.Gly180fs) rs1216093309
NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser) rs1664140651
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr) rs547679833
NM_014053.4(FLVCR1):c.838G>A (p.Gly280Arg) rs1085308007
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968

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