ClinVar Miner

List of variants in gene RP1 studied for Retinitis pigmentosa 1

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Total variants: 79
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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.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.616-6T>C rs186571865 0.00458
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.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp) rs555883522 0.00011
NM_006269.2(RP1):c.1726G>A (p.Val576Met) rs201008674 0.00007
NM_006269.2(RP1):c.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
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.3317T>C (p.Val1106Ala) rs1043235694 0.00004
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) rs756000109 0.00003
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter) rs760689800 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly) rs546625124 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_001375654.1(RP1):c.2212-1G>A rs997666144 0.00001
NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter) rs869320728 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg) rs1245809381 0.00001
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006269.1:c.-12-1431_*286del
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro) rs530033470
NM_006269.2(RP1):c.1994del (p.Leu665fs) rs2129316359
NM_006269.2(RP1):c.2001del (p.Val668fs)
NM_006269.2(RP1):c.2015dup (p.Lys673fs) rs2129316376
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2079del (p.Gly694fs) rs2129316415
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs) rs2129316420
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2166del (p.Gly723fs) rs2129316459
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2287_2290del (p.Asn763fs) rs869320727
NM_006269.2(RP1):c.2335del (p.Ser779fs) rs1563330595
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter) rs2129316679
NM_006269.2(RP1):c.257dup (p.Arg87fs) rs1314420869
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.368_369dup (p.Pro124fs) rs1246397238
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.4171del (p.Gln1391fs) rs2129317503
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter) rs1806147660
NM_006269.2(RP1):c.4709del (p.Gly1570fs) rs2129317773
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080
NM_006269.2(RP1):c.532C>T (p.Gln178Ter) rs2129314462
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006269.2(RP1):c.6_7del (p.Ser2fs)
NM_006269.2(RP1):c.788-2_790del rs779627969
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
NM_006269.2(RP1):c.961_963del (p.Lys321del) rs2129315881

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