ClinVar Miner

List of variants in gene FLVCR1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) rs754655924 0.00001
NM_014053.4(FLVCR1):c.1307+5G>T rs777846238 0.00001
NM_014053.4(FLVCR1):c.1023T>C (p.Tyr341=)
NM_014053.4(FLVCR1):c.1120G>A (p.Gly374Arg)
NM_014053.4(FLVCR1):c.1191A>C (p.Thr397=) rs140955508
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.1319C>G (p.Thr440Ser)
NM_014053.4(FLVCR1):c.30G>A (p.Ala10=) rs1572001189
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968

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