ClinVar Miner

List of variants in gene combination CNGA1, LOC101927157 reported as uncertain significance for Retinitis pigmentosa

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) rs76061451 0.01445
NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln) rs76537883 0.01212
NM_001379270.1(CNGA1):c.*342T>C rs186362115 0.00237
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_001379270.1(CNGA1):c.*274C>T rs141978020 0.00089
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=) rs147591591 0.00079
NM_001379270.1(CNGA1):c.-59C>T rs752798829 0.00073
NM_001379270.1(CNGA1):c.483T>C (p.Tyr161=) rs201341924 0.00071
NM_001379270.1(CNGA1):c.545+11T>C rs187802155 0.00070
NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=) rs201553765 0.00041
NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys) rs539600817 0.00035
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_001379270.1(CNGA1):c.1058C>T (p.Thr353Ile) rs183197573 0.00031
NM_001379270.1(CNGA1):c.*62A>T rs553735132 0.00020
NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val) rs201031527 0.00013
NM_001379270.1(CNGA1):c.672G>A (p.Leu224=) rs149504668 0.00009
NM_001379270.1(CNGA1):c.705A>G (p.Lys235=) rs368137821 0.00007
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_001379270.1(CNGA1):c.*352C>T rs921230822 0.00004
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_001379270.1(CNGA1):c.1237A>G (p.Ile413Val) rs200148364 0.00003
NM_001379270.1(CNGA1):c.1463T>C (p.Val488Ala) rs374880057 0.00003
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) rs750954043 0.00002
NM_001379270.1(CNGA1):c.287+14C>A rs777903781 0.00002
NM_001379270.1(CNGA1):c.*35C>T rs757494572 0.00001
NM_001379270.1(CNGA1):c.*53A>G rs1257715115 0.00001
NM_001379270.1(CNGA1):c.-122-10A>T rs886059424 0.00001
NM_001379270.1(CNGA1):c.1298G>T (p.Trp433Leu) rs762935052 0.00001
NM_001379270.1(CNGA1):c.1391A>G (p.Asn464Ser) rs749947364 0.00001
NM_001379270.1(CNGA1):c.220C>T (p.Gln74Ter) rs1490804242 0.00001
NM_001379270.1(CNGA1):c.641G>A (p.Arg214Gln) rs776929323 0.00001
NM_001379270.1(CNGA1):c.642A>G (p.Arg214=) rs752257711 0.00001
NM_001379270.1(CNGA1):c.*227A>T rs1738627987
NM_001379270.1(CNGA1):c.1712G>A (p.Cys571Tyr) rs886059422
NM_001379270.1(CNGA1):c.35T>C (p.Phe12Ser) rs981071919
NM_001379270.1(CNGA1):c.816dup (p.Arg273fs) rs767994904
NM_001379270.1(CNGA1):c.829A>G (p.Met277Val) rs886059423
NM_001379270.1(CNGA1):c.848G>A (p.Arg283Lys) rs577505007

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