ClinVar Miner

List of variants in gene RP2 studied for Retinal dystrophy

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs) rs1924895234
NM_006915.3(RP2):c.163G>A (p.Gly55Arg) rs1924896657
NM_006915.3(RP2):c.168_178del (p.Val57fs) rs1924896735
NM_006915.3(RP2):c.178C>T (p.Gln60Ter) rs1924897230
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) rs878853380
NM_006915.3(RP2):c.324C>A (p.Cys108Ter) rs1924901288
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.400C>T (p.Gln134Ter) rs1924904407
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_006915.3(RP2):c.415T>C (p.Ser139Pro) rs1924905056
NM_006915.3(RP2):c.507del (p.Asn169fs) rs878853381
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) rs1924908706
NM_006915.3(RP2):c.768+1G>C rs1924915809
NM_006915.3(RP2):c.774_777del (p.Gly259fs) rs1925035229
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_006915.3(RP2):c.884-1G>A rs1925389524

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