ClinVar Miner

List of variants in gene combination CNGA1, LOC101927157 reported as benign for not provided

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.-14-218T>C rs1972884 0.85483
NM_001379270.1(CNGA1):c.108-29T>A rs3845160 0.85322
NM_001379270.1(CNGA1):c.224+223A>G rs3762858 0.85320
NM_001379270.1(CNGA1):c.225-33C>T rs1972883 0.85296
NM_001379270.1(CNGA1):c.288-26G>C rs6819506 0.83146
NM_001379270.1(CNGA1):c.-15+10300C>T rs7693648 0.52918
NM_001379270.1(CNGA1):c.340G>A (p.Asp114Asn) rs28642966 0.14829
NM_001379270.1(CNGA1):c.1620C>T (p.Phe540=) rs17573673 0.05795
NM_001379270.1(CNGA1):c.2034G>A (p.Ala678=) rs73145999 0.01706
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.1031A>G (p.Lys344Arg) rs140419673 0.00205
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.546-18G>A rs368061050 0.00037
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_001379270.1(CNGA1):c.672G>A (p.Leu224=) rs149504668 0.00009
NM_001379270.1(CNGA1):c.1019G>A (p.Arg340His) rs150374036 0.00003
NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val) rs549705696 0.00002
NM_001379270.1(CNGA1):c.-15+10296G>A
NM_001379270.1(CNGA1):c.438-213_438-212del rs201657712
NM_001379270.1(CNGA1):c.438-214_438-212del rs201657712
NM_001379270.1(CNGA1):c.438-215_438-212del rs201657712
NM_001379270.1(CNGA1):c.545+27_545+28del rs10709670
NM_001379270.1(CNGA1):c.545+28del rs10709670
NM_001379270.1(CNGA1):c.546-5dup

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