ClinVar Miner

List of variants studied for retinitis pigmentosa 4 by 3billion

Included ClinVar conditions (3):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.302G>A (p.Gly101Glu) rs759945007
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.851G>A (p.Gly284Asp) rs2084791045
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000539.3(RHO):c.888G>T (p.Lys296Asn) rs2084793009

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