ClinVar Miner

List of variants reported as likely pathogenic for Rod-cone dystrophy

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Total variants: 17
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NM_000283.3(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
NM_006531.5(IFT88):c.1082dup (p.Asn361fs)
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs)
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
NM_052989.3(IFT122):c.3649del (p.Glu1217fs)

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