ClinVar Miner

List of variants studied for Retinitis pigmentosa 38

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val) rs2230515 0.62489
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) rs7604639 0.62439
NM_006343.3(MERTK):c.757+13T>C rs3761701 0.58627
NM_006343.3(MERTK):c.1881A>G (p.Ser627=) rs1131244 0.57808
NM_006343.3(MERTK):c.1296+28T>G rs57297275 0.23549
NM_006343.3(MERTK):c.1494C>T (p.Asn498=) rs3811634 0.22888
NM_006343.3(MERTK):c.1451-20G>A rs3811633 0.22861
NM_006343.3(MERTK):c.583+10C>T rs11683694 0.22086
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793 0.06012
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_006343.3(MERTK):c.61+19G>A rs115821982 0.03962
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.02007
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr) rs780214104 0.00006
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) rs147779020 0.00003
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs) rs773105686 0.00003
NM_006343.3(MERTK):c.1605-2A>G rs730880273 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.520A>T (p.Ile174Phe) rs775179251 0.00002
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) rs778383770 0.00001
NM_006343.3(MERTK):c.518A>G (p.Tyr173Cys) rs771533393 0.00001
GRCh37/hg19 2q13(chr2:112658687-112833108)x1
GRCh38/hg38 2q13(chr2:111940205-112029659)x0
GRCh38/hg38 2q13(chr2:111940205-112055854)x1
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
NC_000002.10:g.112364620_112455677del
NG_011607.1:g.(86577_89228)_(89381_96385)del
NM_006343.2:c.-8163_c.1145-1213del
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter) rs868566811
NM_006343.3(MERTK):c.1296+1G>C rs774577413
NM_006343.3(MERTK):c.1296+5G>A rs1553454799
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs) rs1676689811
NM_006343.3(MERTK):c.1450+2T>G rs1573627154
NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter) rs1676862579
NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter) rs1676926630
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2080-11C>A rs3811640
NM_006343.3(MERTK):c.2162A>C (p.His721Pro) rs778005207
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)
NM_006343.3(MERTK):c.2190-1G>T rs2104423659
NM_006343.3(MERTK):c.2190-2A>G rs2104423657
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser) rs863224894
NM_006343.3(MERTK):c.2211_2214del (p.Cys738fs) rs1487540503
NM_006343.3(MERTK):c.2214del (p.Cys738fs) rs886039422
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.2377del (p.Glu792_Ile793insTer)
NM_006343.3(MERTK):c.2402A>G (p.Tyr801Cys)
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176
NM_006343.3(MERTK):c.2845G>A (p.Val949Ile)
NM_006343.3(MERTK):c.296_297del (p.Thr99fs)
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter) rs527236134
NM_006343.3(MERTK):c.56_61+15del rs2104652801
NM_006343.3(MERTK):c.584-1G>T rs1553449458
NM_006343.3(MERTK):c.590C>T (p.Pro197Leu)
NM_006343.3(MERTK):c.597T>A (p.Phe199Leu) rs1573591956
NM_006343.3(MERTK):c.61+1G>A rs1573554264
NM_006343.3(MERTK):c.634A>C (p.Thr212Pro) rs2104704629
NM_006343.3(MERTK):c.669G>A (p.Pro223=) rs750984679
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser) rs1573592033
NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)
NM_006343.3(MERTK):c.734C>A (p.Ser245Tyr) rs2104704713
NM_006343.3(MERTK):c.756A>G (p.Pro252=) rs3761702
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491

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