ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 450
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser) rs34596269 0.00013
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly) rs769749617 0.00011
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile) rs150185423 0.00011
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg) rs371919912 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp) rs374679518 0.00008
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met) rs370742162 0.00007
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser) rs773849840 0.00006
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr) rs978982123 0.00006
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu) rs769129492 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala) rs375468242 0.00004
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr) rs147586061 0.00004
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln) rs144151076 0.00004
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln) rs747173302 0.00004
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr) rs761828482 0.00004
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln) rs369222553 0.00004
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val) rs577880164 0.00004
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His) rs141352623 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr) rs1009898777 0.00004
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln) rs369527655 0.00004
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met) rs746002871 0.00003
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile) rs779224998 0.00003
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr) rs749314383 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly) rs878853342 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln) rs773307918 0.00003
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile) rs750399742 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe) rs764280512 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys) rs770255396 0.00002
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser) rs748301943 0.00002
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln) rs753488664 0.00002
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu) rs200189360 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp) rs765906787 0.00002
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu) rs770016889 0.00002
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr) rs759957436 0.00002
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser) rs766482364 0.00002
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys) rs1328542671 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys) rs558294899 0.00002
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln) rs201388569 0.00002
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp) rs145420245 0.00002
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met) rs375727197 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=) rs749863195 0.00002
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp) rs890569519 0.00002
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp) rs545271894 0.00001
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln) rs373827556 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu) rs1388468307 0.00001
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile) rs202111469 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro) rs1406502907 0.00001
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro) rs1478819668 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg) rs1345987699 0.00001
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser) rs537729498 0.00001
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro) rs1198818689 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+4G>A rs1191933070 0.00001
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys) rs1168076308 0.00001
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile) rs759173115 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys) rs1975657387 0.00001
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His) rs568220391 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile) rs767258249 0.00001
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp) rs757230483 0.00001
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln) rs746020263 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg) rs144291605 0.00001
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg) rs1237783733 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro) rs756464199 0.00001
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His) rs368384232 0.00001
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly) rs368958527 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.2412+4A>C rs951825929 0.00001
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp) rs750247123 0.00001
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn) rs1477300555 0.00001
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu) rs1264291406 0.00001
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln) rs760126408 0.00001
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys) rs377594823 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu) rs374515716 0.00001
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro) rs1214999566 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr) rs1300514080 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg) rs766418901 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr) rs768417052 0.00001
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met) rs781010216 0.00001
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr) rs1304984076 0.00001
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val) rs1567957056 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser) rs1187326101 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr) rs750743574 0.00001
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys) rs1024155105 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln) rs765369504 0.00001
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val) rs780953815 0.00001
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln) rs770873775 0.00001
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610 0.00001
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His) rs765439946 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn) rs763099634 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NC_000017.10:g.(?_7846709)_(8000124_?)dup
NC_000017.10:g.(?_7906366)_(8027402_?)dup
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys) rs768812125
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala) rs755696904
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile) rs202111469
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu) rs2151800552
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp) rs769749617
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp) rs140638938
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1378+5G>A rs2151800630
NM_000180.4(GUCY2D):c.1378+5G>C rs2151800630
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr) rs1975657312
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile) rs2151800878
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile) rs767360120
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe) rs767360120
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu) rs372005126
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val) rs2151802372
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr) rs1975865453
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser) rs1975865453
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly) rs1975867670
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr) rs1975873821
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu) rs935195316
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr) rs1975891409
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val) rs2151802824
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup) rs1975666989
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro) rs1166312966
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup) rs952193754
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val) rs1975911307
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly) rs894774212
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp) rs2151803325
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val) rs1975943872
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg) rs749432012
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg) rs2151803673
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile) rs1975948376
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp) rs754320374
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val) rs754320374
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln) rs371952237
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly) rs776624188
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp) rs776624188
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu) rs1240857882
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro) rs2151799381
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys) rs917296356
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser) rs1975680506
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met) rs1975680589
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val) rs959135126
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg) rs61749673
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834

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