ClinVar Miner

List of variants in gene FLVCR1 reported as likely pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs) rs748989557
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

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