ClinVar Miner

List of variants studied for retinitis pigmentosa 2 by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.16_18del (p.Ser6del) rs137852284
NM_006915.3(RP2):c.299dup (p.Phe101fs) rs1924900389
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.353G>T (p.Arg118Leu) rs28933687
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) rs104894926
NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4) rs2147081376
NM_006915.3(RP2):c.76C>T (p.Gln26Ter) rs104894925

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