ClinVar Miner

List of variants in gene TOPORS studied for Retinitis pigmentosa

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=) rs12348918 0.19195
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) rs10971019 0.16858
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) rs112527210 0.01946
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp) rs17857515 0.01479
NM_005802.5(TOPORS):c.2435C>G (p.Pro812Arg) rs36034138 0.01098
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) rs41302222 0.00253
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) rs61756347 0.00220
NM_005802.5(TOPORS):c.2567A>G (p.Lys856Arg) rs181426035 0.00178
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) rs115436019 0.00171
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_005802.5(TOPORS):c.1238A>C (p.Gln413Pro) rs61758062 0.00103
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=) rs3814518 0.00083
NM_005802.5(TOPORS):c.1722G>A (p.Leu574=) rs12236253 0.00073
NM_005802.5(TOPORS):c.1389C>T (p.Thr463=) rs61758063 0.00021
NM_005802.5(TOPORS):c.*117A>G rs752719297 0.00020
NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg) rs148620735 0.00019
NM_005802.5(TOPORS):c.*300A>G rs911094732 0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) rs143560726 0.00017
NM_005802.5(TOPORS):c.*371T>C rs970207555 0.00014
NM_005802.5(TOPORS):c.*100C>G rs886063852 0.00010
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=) rs371017482 0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) rs746320974 0.00009
NM_005802.5(TOPORS):c.360A>G (p.Leu120=) rs147302494 0.00008
NM_005802.5(TOPORS):c.*309G>A rs531812368 0.00007
NM_005802.5(TOPORS):c.*640T>A rs753971890 0.00007
NM_005802.5(TOPORS):c.*47A>G rs778217226 0.00006
NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly) rs147071021 0.00006
NM_005802.5(TOPORS):c.*341T>C rs563137078 0.00005
NM_005802.5(TOPORS):c.1707A>G (p.Ser569=) rs368712338 0.00005
NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr) rs373410505 0.00005
NM_005802.5(TOPORS):c.*308C>T rs984434581 0.00004
NM_005802.5(TOPORS):c.2048G>A (p.Arg683Gln) rs149570596 0.00003
NM_005802.5(TOPORS):c.*686T>C rs192538022 0.00002
NM_005802.5(TOPORS):c.1353A>C (p.Thr451=) rs1382029583 0.00002
NM_005802.5(TOPORS):c.1725C>T (p.Asn575=) rs757674137 0.00002
NM_005802.5(TOPORS):c.1938A>C (p.Ser646=) rs376719585 0.00002
NM_005802.5(TOPORS):c.2467A>G (p.Ser823Gly) rs377384599 0.00002
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val) rs757527959 0.00002
NM_005802.5(TOPORS):c.*24A>G rs191337644 0.00001
NM_005802.5(TOPORS):c.*9A>G rs201576667 0.00001
NM_005802.5(TOPORS):c.1170A>T (p.Ser390=) rs763061457 0.00001
NM_005802.5(TOPORS):c.1426G>C (p.Asp476His) rs886063854 0.00001
NM_005802.5(TOPORS):c.1788A>C (p.Arg596Ser) rs886063853 0.00001
NM_005802.5(TOPORS):c.1793G>C (p.Arg598Thr) rs749210641 0.00001
NM_005802.5(TOPORS):c.2010A>C (p.Ser670=) rs762871906 0.00001
NM_005802.5(TOPORS):c.2024G>A (p.Ser675Asn) rs111359713 0.00001
NM_005802.5(TOPORS):c.2967A>G (p.Ala989=) rs761500932 0.00001
NM_005802.5(TOPORS):c.568G>A (p.Ala190Thr) rs1305316061 0.00001
NM_005802.5(TOPORS):c.829C>T (p.Arg277Cys) rs770446904 0.00001
NM_005802.5(TOPORS):c.*350A>G rs979887725
NM_005802.5(TOPORS):c.*358T>C rs1821048003
NM_005802.5(TOPORS):c.*430A>G rs1821046786
NM_005802.5(TOPORS):c.*506A>G rs886063851
NM_005802.5(TOPORS):c.143G>T (p.Gly48Val) rs1587627051
NM_005802.5(TOPORS):c.1817G>A (p.Ser606Asn) rs1821086096
NM_005802.5(TOPORS):c.199-9C>T rs1176852169
NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly) rs794727506
NM_005802.5(TOPORS):c.2234C>G (p.Ser745Cys) rs758096681
NM_005802.5(TOPORS):c.2321G>A (p.Ser774Asn) rs1821074946
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) rs1587620892
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2569del (p.Arg857fs) rs1554671407
NM_005802.5(TOPORS):c.2797G>T (p.Asp933Tyr) rs761851969
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) rs1246790145
NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn) rs1821057345
NM_005802.5(TOPORS):c.3090dup (p.Thr1031fs) rs1257671376
NM_005802.5(TOPORS):c.487C>T (p.Leu163=) rs1319962569
NM_005802.5(TOPORS):c.576G>T (p.Val192=) rs116721635
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu) rs61758066

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