ClinVar Miner

Variants in gene RP1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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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.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp) rs77860871 0.00580
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.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) rs146602041 0.00008
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567

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