ClinVar Miner

List of variants in gene CNGA1 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.-129C>T rs224801 0.13824
NM_001379270.1(CNGA1):c.-163G>A rs1023154953 0.00003
NM_001379270.1(CNGA1):c.-189G>A rs1715125888
NM_001379270.1(CNGA1):c.-222-2004C>T rs566127226
NM_001379270.1(CNGA1):c.-222-2043G>C rs1315891464
NM_001379270.1(CNGA1):c.-222-2054T>G rs1715232781
NM_001379270.1(CNGA1):c.-222-2062G>T rs1269991697

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