ClinVar Miner

List of variants in gene RP2 reported as benign 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: 12
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.*828G>A rs4239962 0.99135
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_006915.3(RP2):c.*2085T>C rs73478384 0.00737
NM_006915.3(RP2):c.*2163T>C rs35931067 0.00599
NM_006915.3(RP2):c.*958A>C rs190692640 0.00507
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_006915.3(RP2):c.*435C>T rs147975002 0.00468
NM_006915.3(RP2):c.606T>C (p.Pro202=) rs144795993 0.00408
NM_006915.3(RP2):c.601A>G (p.Ile201Val) rs149503319 0.00307
NM_006915.3(RP2):c.*2156A>G rs141748740 0.00066
NM_006915.3(RP2):c.*904A>G rs144870840 0.00052
NM_006915.3(RP2):c.*1908G>A rs782216739

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