ClinVar Miner

List of variants in gene RP1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) rs147990983 0.00147
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.1568A>G (p.Asn523Ser) rs144309486 0.00052
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) rs147384119 0.00007
NM_006269.2(RP1):c.3305A>G (p.Gln1102Arg) rs398124219 0.00006
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.205A>T (p.Asn69Tyr) rs794727282 0.00002
NM_006269.2(RP1):c.2494G>T (p.Asp832Tyr) rs371471873 0.00001
NM_006269.2(RP1):c.4633A>G (p.Lys1545Glu) rs767994258 0.00001
NM_006269.2(RP1):c.820C>A (p.Gln274Lys) rs776541829 0.00001
NM_006269.2(RP1):c.1989G>T (p.Lys663Asn) rs372551375
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter) rs1554519662
NM_006269.2(RP1):c.3734del (p.Cys1245fs) rs1563331742
NM_006269.2(RP1):c.4467C>T (p.Ala1489=) rs794727639
NM_006269.2(RP1):c.4555del (p.Arg1519fs) rs794727640
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567

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