ClinVar Miner

List of variants in gene RP1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330 0.03211
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.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_006269.2(RP1):c.6210C>T (p.Asn2070=) rs767325122 0.00005
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala) rs1043235694 0.00004
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080

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