ClinVar Miner

List of variants studied for age related macular degeneration 1 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 274
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.11684-13G>A rs10157742 0.64202
NM_031935.3(HMCN1):c.8885-7A>G rs6425017 0.63553
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) rs7522627 0.63057
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_031935.3(HMCN1):c.12230-7A>C rs2057388 0.52362
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825 0.39391
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753 0.35166
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719 0.16805
NM_031935.3(HMCN1):c.14266+17G>C rs17531405 0.12803
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507 0.08845
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374 0.04046
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281 0.03312
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) rs77026548 0.03129
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141 0.03127
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393 0.02671
NM_031935.3(HMCN1):c.11849-8A>C rs78780269 0.02456
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272 0.02399
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176 0.01714
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) rs12067376 0.01472
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) rs3737942 0.01470
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462 0.01418
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491 0.01364
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910 0.01345
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) rs78541701 0.01250
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983 0.01216
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296 0.01178
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536 0.01074
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys) rs76748242 0.01024
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489 0.00992
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp) rs74136012 0.00984
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) rs57832192 0.00905
NM_031935.3(HMCN1):c.13040-3C>T rs41317493 0.00895
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673 0.00845
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887 0.00678
NM_031935.3(HMCN1):c.6029-11G>T rs10911802 0.00678
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8757T>C (p.His2919=) rs148188970 0.00653
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007 0.00507
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070 0.00480
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) rs74136049 0.00474
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) rs114051074 0.00463
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191 0.00436
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315 0.00404
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) rs139870667 0.00379
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile) rs141096306 0.00371
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) rs74136061 0.00324
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val) rs114270813 0.00309
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703 0.00259
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) rs41317483 0.00239
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562 0.00193
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285 0.00156
NM_031935.3(HMCN1):c.2372-3C>T rs186546131 0.00139
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011 0.00113
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335 0.00112
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) rs147995526 0.00111
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) rs144384070 0.00108
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107 0.00091
NM_031935.3(HMCN1):c.5851+10del rs375820274 0.00091
NM_031935.3(HMCN1):c.13231-4A>G rs191690433 0.00081
NM_031935.3(HMCN1):c.15440-13C>T rs12034495 0.00081
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) rs150618921 0.00061
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095 0.00060
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977 0.00057
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) rs143665535 0.00048
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) rs145398864 0.00046
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227 0.00046
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) rs140559544 0.00046
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val) rs145889775 0.00038
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) rs148265876 0.00036
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661 0.00033
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935 0.00033
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) rs145595000 0.00031
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) rs140296295 0.00030
NM_031935.3(HMCN1):c.10989+5A>G rs200045422 0.00029
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385 0.00029
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396 0.00026
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00020
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00019
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala) rs138440972 0.00018
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) rs376910631 0.00017
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) rs199920138 0.00017
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys) rs149594098 0.00016
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn) rs139899015 0.00016
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile) rs200642597 0.00015
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val) rs781513060 0.00015
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met) rs140990615 0.00015
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys) rs199574143 0.00014
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His) rs41317505 0.00014
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe) rs188107197 0.00014
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158 0.00014
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) rs757430423 0.00011
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906 0.00011
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349 0.00011
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln) rs202206115 0.00011
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln) rs140641844 0.00010
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) rs372803002 0.00010
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser) rs77460954 0.00009
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser) rs143393655 0.00009
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) rs199945360 0.00009
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) rs752692827 0.00008
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr) rs754660196 0.00008
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937 0.00008
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) rs146636123 0.00007
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) rs184081240 0.00007
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp) rs371095992 0.00007
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly) rs776783939 0.00007
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile) rs769706639 0.00007
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) rs370518238 0.00007
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) rs41317477 0.00007
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala) rs201878929 0.00007
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) rs747405345 0.00006
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn) rs200601125 0.00006
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) rs371177035 0.00006
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) rs376132541 0.00006
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) rs146247104 0.00005
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg) rs770537331 0.00005
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met) rs553018813 0.00005
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) rs370251638 0.00005
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile) rs147722917 0.00005
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) rs367750334 0.00004
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln) rs565996021 0.00004
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956 0.00004
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) rs754953588 0.00004
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro) rs779907065 0.00004
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) rs201953947 0.00004
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) rs140480677 0.00004
NM_031935.3(HMCN1):c.498+15A>C rs565661847 0.00004
NM_031935.3(HMCN1):c.5749+6G>A rs575776317 0.00004
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr) rs536019281 0.00004
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) rs142475663 0.00004
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp) rs1404028877 0.00004
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) rs773110395 0.00003
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu) rs766042341 0.00003
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) rs373876634 0.00003
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) rs766387783 0.00003
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe) rs754608294 0.00003
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) rs373402377 0.00003
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) rs559595305 0.00003
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln) rs370909774 0.00002
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys) rs779454634 0.00002
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) rs200327975 0.00002
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) rs749154171 0.00002
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr) rs746480984 0.00001
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln) rs745313929 0.00001
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg) rs777770411 0.00001
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys) rs1400175925 0.00001
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) rs200984902 0.00001
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met) rs563362752 0.00001
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp) rs536701183 0.00001
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val) rs748823261 0.00001
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp) rs1046849931 0.00001
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg) rs368702685 0.00001
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met) rs762631011 0.00001
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu) rs780422973 0.00001
NM_031935.3(HMCN1):c.4200+6T>C rs759273685 0.00001
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) rs762354666 0.00001
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser) rs1332606772 0.00001
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile) rs766434071 0.00001
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194 0.00001
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val) rs1167111929 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe) rs201586866 0.00001
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile) rs376875658 0.00001
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) rs574155244 0.00001
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys) rs747230633 0.00001
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His) rs375407833 0.00001
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) rs886045676 0.00001
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser) rs146969586 0.00001
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) rs369620574
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly) rs201041141
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala) rs145492995
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) rs367723447
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala) rs767233028
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys) rs749090856
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe) rs369798131
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys) rs765224895
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys) rs756344375
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys) rs200822474
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
NM_031935.3(HMCN1):c.7426+8T>C
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe) rs192222844
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.