ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 432
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe) rs575644902 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 0.00009
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=) rs199967386 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val) rs541118531 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val) rs1085307684 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile) rs373004988 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7675-114A>G rs1206115857 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg) rs781370939 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser) rs768218725 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln) rs763549947 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr) rs749624694 0.00001
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn) rs756136080 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.11362G>A (p.Ala3788Thr) rs1674982899 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.136G>A (p.Val46Met) rs1057524276 0.00001
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys) rs751415466 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2182C>A (p.Gln728Lys) rs1671859807 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val) rs1045211044 0.00001
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp) rs780314593 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn) rs925686650 0.00001
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr) rs754804407 0.00001
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys) rs776002916 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr) rs1288519568 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly) rs1209226433 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly) rs1671977745 0.00001
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser) rs772858451 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala) rs772620985 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.7091A>C (p.Gln2364Pro) rs370992564 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly) rs769890820 0.00001
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu) rs769405720 0.00001
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe) rs761272792 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=) rs1338132238 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9461C>G (p.Thr3154Ser) rs1377763374 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro) rs1553412796 0.00001
GRCh37/hg19 2p13.1(chr2:73789532-73842218)x1
NM_001378454.1(ALMS1):c.1003G>T (p.Asp335Tyr) rs779002116
NM_001378454.1(ALMS1):c.10061T>C (p.Leu3354Ser) rs2104035328
NM_001378454.1(ALMS1):c.10142T>G (p.Ile3381Ser) rs1558693233
NM_001378454.1(ALMS1):c.10223C>T (p.Ala3408Val)
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.1034A>G (p.Tyr345Cys)
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.10454A>G (p.His3485Arg) rs2104103721
NM_001378454.1(ALMS1):c.10462G>C (p.Val3488Leu) rs1057523167
NM_001378454.1(ALMS1):c.10552C>T (p.His3518Tyr) rs2104104161
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His) rs1450650278
NM_001378454.1(ALMS1):c.10958A>G (p.Asp3653Gly)
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11324T>A (p.Leu3775Gln)
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
NM_001378454.1(ALMS1):c.12316_12332del (p.Lys4106fs) rs1558712932
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12478C>A (p.Leu4160Ile)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.132G>T (p.Glu44Asp)
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
NM_001378454.1(ALMS1):c.1588A>C (p.Thr530Pro)
NM_001378454.1(ALMS1):c.165C>G (p.Asp55Glu) rs779615407
NM_001378454.1(ALMS1):c.1660G>C (p.Val554Leu) rs1558647450
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) rs1064795650
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.179A>G (p.Tyr60Cys)
NM_001378454.1(ALMS1):c.1874_1876delinsAAA (p.Arg625_Glu626delinsLysLys) rs2103772611
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
NM_001378454.1(ALMS1):c.2015_2016delinsGT (p.Val672Gly)
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.2140A>G (p.Thr714Ala) rs2103773812
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
NM_001378454.1(ALMS1):c.2450T>C (p.Leu817Pro)
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.251C>G (p.Pro84Arg)
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2642C>T (p.Thr881Ile)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.3047A>C (p.Glu1016Ala) rs1085307601
NM_001378454.1(ALMS1):c.3275T>C (p.Val1092Ala)
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3413C>T (p.Thr1138Ile) rs1671892972
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3661G>A (p.Val1221Ile) rs774268493
NM_001378454.1(ALMS1):c.36GGA[4] (p.Glu20_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[5] (p.Glu21_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3740T>C (p.Ile1247Thr)
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
NM_001378454.1(ALMS1):c.3911G>A (p.Ser1304Asn)
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.4150C>A (p.His1384Asn) rs1228297685
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4547C>T (p.Pro1516Leu)
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.46G>A (p.Glu16Lys) rs1174023229
NM_001378454.1(ALMS1):c.4729C>T (p.Pro1577Ser)
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
NM_001378454.1(ALMS1):c.4945G>A (p.Gly1649Arg)
NM_001378454.1(ALMS1):c.4978G>C (p.Val1660Leu) rs2103784697
NM_001378454.1(ALMS1):c.5006G>T (p.Gly1669Val) rs267599447
NM_001378454.1(ALMS1):c.5056G>C (p.Glu1686Gln) rs1553403999
NM_001378454.1(ALMS1):c.5059_5061delinsAAG (p.Glu1687Lys) rs2103784975
NM_001378454.1(ALMS1):c.5099AGA[1] (p.Lys1701del)
NM_001378454.1(ALMS1):c.5103G>C (p.Lys1701Asn) rs2103785098
NM_001378454.1(ALMS1):c.5148G>T (p.Glu1716Asp)
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5195C>T (p.Thr1732Ile) rs2103785499
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.539A>T (p.Glu180Val)
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln) rs200925575
NM_001378454.1(ALMS1):c.54_60delinsA (p.Glu27_Glu28del)
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.5656A>T (p.Thr1886Ser) rs886043799
NM_001378454.1(ALMS1):c.5665C>G (p.Gln1889Glu) rs2103787285
NM_001378454.1(ALMS1):c.5796G>T (p.Glu1932Asp)
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.6086C>A (p.Thr2029Asn) rs1671971138
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=) rs794727925
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp) rs1348368424
NM_001378454.1(ALMS1):c.7492G>A (p.Glu2498Lys) rs1057524023
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7603G>A (p.Asp2535Asn)
NM_001378454.1(ALMS1):c.7676G>A (p.Gly2559Asp) rs1248528012
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
NM_001378454.1(ALMS1):c.7756T>A (p.Cys2586Ser) rs1485228491
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg) rs761242664
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8339C>T (p.Ser2780Leu)
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
NM_001378454.1(ALMS1):c.8533A>G (p.Ile2845Val) rs1057524748
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8672G>A (p.Ser2891Asn) rs756101133
NM_001378454.1(ALMS1):c.872G>T (p.Ser291Ile) rs568470985
NM_001378454.1(ALMS1):c.8736T>G (p.Asp2912Glu) rs189758049
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8809T>G (p.Tyr2937Asp) rs2103893348
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.886T>G (p.Ser296Ala)
NM_001378454.1(ALMS1):c.8917G>A (p.Ala2973Thr) rs2103893908
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9574T>C (p.Phe3192Leu) rs1294949042
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
NM_001378454.1(ALMS1):c.9607C>G (p.Gln3203Glu) rs956247442
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9715A>G (p.Lys3239Glu) rs2103962480
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9856C>G (p.Pro3286Ala) rs762224373
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9908-1G>A
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
NM_001378454.1(ALMS1):c.9956C>T (p.Thr3319Ile) rs2104034941

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