ClinVar Miner

List of variants in gene FLVCR1 reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423
NM_014053.4(FLVCR1):c.1093-12_1095del
NM_014053.4(FLVCR1):c.1169T>G (p.Leu390Ter) rs1558118957
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile)
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.1547G>A (p.Arg516Gln)
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
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104
NM_014053.4(FLVCR1):c.539del (p.Gly180fs)
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821
NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser)
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter) rs746482522
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
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.847G>C (p.Ala283Pro) rs777525949
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968

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