ClinVar Miner

List of variants in gene PDE6B reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1615-221A>G rs4690287 0.99959
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000283.4(PDE6B):c.1401+86T>A rs28742266 0.31333
NM_000283.4(PDE6B):c.2268+253G>A rs28583078 0.21742
NM_000283.4(PDE6B):c.1059+81C>T rs28630797 0.20703
NM_000283.4(PDE6B):c.2503+136C>T rs28568555 0.20699
NM_000283.4(PDE6B):c.1832+197G>T rs28586910 0.19913
NM_000283.4(PDE6B):c.2129+294G>T rs3891250 0.19490
NM_000283.4(PDE6B):c.1614+243A>G rs13119162 0.19421
NM_000283.4(PDE6B):c.469-291T>G rs28754797 0.18506
NM_000283.4(PDE6B):c.993-90C>A rs28742899 0.17300
NM_000283.4(PDE6B):c.2503+160G>A rs28483373 0.17169
NM_000283.4(PDE6B):c.1921-193A>G rs9985747 0.16187
NM_000283.4(PDE6B):c.1615-42C>G rs73058406 0.11552
NM_000283.4(PDE6B):c.712-138G>C rs28569875 0.11179
NM_000283.4(PDE6B):c.621+75C>T rs72613106 0.10898
NM_000283.4(PDE6B):c.1401+396C>T rs113260926 0.08770
NM_000283.4(PDE6B):c.2022-45del rs35199616 0.06332
NM_000283.4(PDE6B):c.993-132G>C rs28535694 0.06139
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000283.4(PDE6B):c.1467+20C>T rs74464382 0.05011
NM_000283.4(PDE6B):c.712-39G>A rs28514424 0.03763
NM_000283.4(PDE6B):c.1108-205G>A rs35621580 0.03573
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_000283.4(PDE6B):c.1467+77G>A rs10023609 0.03097
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_000283.4(PDE6B):c.468+113C>T rs9995112 0.02581
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NC_000004.12:g.625470T>C rs75749799 0.02569
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_000283.4(PDE6B):c.469-210C>T rs28615478 0.02559
NM_000283.4(PDE6B):c.1107+112G>T rs76455781 0.02539
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_000283.4(PDE6B):c.928-175G>A rs116353162 0.00847
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_000283.4(PDE6B):c.1467+18G>A rs140243735 0.00555
NM_000283.4(PDE6B):c.26G>A (p.Arg9Gln) rs76755568 0.00548
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val) rs148829093 0.00434
NM_000283.4(PDE6B):c.1059+9C>G rs112918073 0.00427
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_000283.4(PDE6B):c.2194-13C>A rs147952407 0.00395
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_000283.4(PDE6B):c.852+11C>T rs148464123 0.00312
NM_000283.4(PDE6B):c.711+11G>A rs111340191 0.00257
NM_000283.4(PDE6B):c.343C>G (p.Pro115Ala) rs147382017 0.00240
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys) rs74411086 0.00198
NM_000283.4(PDE6B):c.1194C>T (p.Val398=) rs116784895 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000283.4(PDE6B):c.1625G>A (p.Arg542Gln) rs190470432 0.00087
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000283.4(PDE6B):c.1401+16A>T rs202051878 0.00068
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000283.4(PDE6B):c.2129+16G>A rs202218348 0.00034
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000283.4(PDE6B):c.726G>A (p.Ser242=) rs200975847 0.00009
NM_000283.4(PDE6B):c.2268+20C>A rs201982527 0.00008
NM_000283.4(PDE6B):c.852+15G>A rs371254584 0.00006
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000283.4(PDE6B):c.1374C>T (p.Cys458=) rs541985727 0.00001
NM_000283.4(PDE6B):c.1806C>T (p.Arg602=) rs140849790 0.00001
GRCh37/hg19 4p16.3(chr4:629047-642251)x1
GRCh37/hg19 4p16.3(chr4:662115-663403)x1
GRCh37/hg19 4p16.3(chr4:662301-663908)x1
NM_000283.3:c.+12A>G
NM_000283.4(PDE6B):c.*153dup rs374413250
NM_000283.4(PDE6B):c.1401+4_1401+48del rs768567008
NM_000283.4(PDE6B):c.1401+5_1401+52del rs2109219043
NM_000283.4(PDE6B):c.1832+238del rs36093261
NM_000283.4(PDE6B):c.1832+238dup rs36093261
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.621+14dup rs756539666
NM_000283.4(PDE6B):c.712-10del
NM_000283.4(PDE6B):c.712-135A>G rs9992641
NM_000283.4(PDE6B):c.927+18G>A
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000283.4(PDE6B):c.992+32G>C rs10027549

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