ClinVar Miner

List of variants in gene HERC1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 533
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.4293T>C (p.Leu1431=) rs61749474 0.02482
NM_003922.4(HERC1):c.5044C>G (p.Leu1682Val) rs74814914 0.02482
NM_003922.4(HERC1):c.13942-209G>A rs78824147 0.02357
NM_003922.4(HERC1):c.10747+293C>A rs72750973 0.02013
NM_003922.4(HERC1):c.1775-296T>C rs74436515 0.01604
NM_003922.4(HERC1):c.12094-130T>G rs189786806 0.01493
NM_003922.4(HERC1):c.10723T>C (p.Leu3575=) rs61738787 0.01401
NM_003922.4(HERC1):c.3742+287G>A rs117786985 0.01369
NM_003922.4(HERC1):c.4636+79A>C rs142578274 0.01338
NM_003922.4(HERC1):c.8469G>A (p.Gly2823=) rs35918222 0.01335
NM_003922.4(HERC1):c.8681-328A>C rs79704534 0.01334
NM_003922.4(HERC1):c.1222-232A>G rs16947416 0.01323
NM_003922.4(HERC1):c.12797-228A>G rs139313347 0.01323
NM_003922.4(HERC1):c.1026+231G>C rs7168823 0.01320
NM_003922.4(HERC1):c.931-116A>G rs7170887 0.01320
NM_003922.4(HERC1):c.5122-314A>G rs114514649 0.01311
NM_003922.4(HERC1):c.10418+101T>G rs77248963 0.01307
NM_003922.4(HERC1):c.10547-34A>C rs115118101 0.01304
NM_003922.4(HERC1):c.10290+143A>G rs16947322 0.01299
NM_003922.4(HERC1):c.1775-223T>C rs74988373 0.01294
NM_003922.4(HERC1):c.10547-261A>T rs139929853 0.01291
NM_003922.4(HERC1):c.2220-35A>G rs79919472 0.01291
NM_003922.4(HERC1):c.11079-181G>T rs74020816 0.01285
NM_003922.4(HERC1):c.2768A>G (p.Asn923Ser) rs35978932 0.01265
NM_003922.4(HERC1):c.3742+12A>G rs143278098 0.01234
NM_003922.4(HERC1):c.5830+309C>T rs139613398 0.01234
NM_003922.4(HERC1):c.5839C>T (p.Leu1947=) rs35098067 0.01229
NM_003922.4(HERC1):c.11184+139T>C rs142886526 0.01218
NM_003922.4(HERC1):c.8555+302G>A rs143266233 0.01181
NM_003922.4(HERC1):c.5932G>T (p.Ala1978Ser) rs34484871 0.01169
NM_003922.4(HERC1):c.10084+270A>G rs79472798 0.01167
NM_003922.4(HERC1):c.2457A>G (p.Ala819=) rs61745864 0.01163
NM_003922.4(HERC1):c.5952A>G (p.Leu1984=) rs74021320 0.01163
NM_003922.4(HERC1):c.7071-260T>C rs7162904 0.01159
NM_003922.4(HERC1):c.12966+265C>A rs74018152 0.01158
NM_003922.4(HERC1):c.11331+113C>G rs8033676 0.01157
NM_003922.4(HERC1):c.12093+245G>T rs74020813 0.01154
NM_003922.4(HERC1):c.11902-241G>A rs148583089 0.01152
NM_003922.4(HERC1):c.11332-15T>C rs78341289 0.01147
NM_003922.4(HERC1):c.12094-171A>G rs74020812 0.01144
NM_003922.4(HERC1):c.7815G>A (p.Leu2605=) rs145406028 0.01144
NM_003922.4(HERC1):c.8680+323A>G rs142929421 0.01142
NM_003922.4(HERC1):c.11902-89G>C rs59224907 0.01139
NM_003922.4(HERC1):c.10879-280A>G rs144000249 0.01136
NM_003922.4(HERC1):c.6048+279C>G rs184326420 0.01118
NM_003922.4(HERC1):c.3978+51C>G rs74021327 0.01075
NM_003922.4(HERC1):c.13180A>G (p.Ile4394Val) rs2228516 0.01040
NM_003922.4(HERC1):c.8556-132G>A rs139830307 0.01026
NM_003922.4(HERC1):c.13942-114G>T rs59408197 0.00990
NM_003922.4(HERC1):c.14559C>T (p.Asn4853=) rs2228518 0.00990
NM_003922.4(HERC1):c.12233-223C>T rs113580718 0.00961
NM_003922.4(HERC1):c.6466-83T>G rs12899462 0.00945
NM_003922.4(HERC1):c.10878+276A>G rs146498400 0.00927
NM_003922.4(HERC1):c.14401-20C>T rs147469276 0.00922
NM_003922.4(HERC1):c.8680+252T>C rs147346469 0.00901
NM_003922.4(HERC1):c.9600-247T>G rs75593412 0.00867
NM_003922.4(HERC1):c.2868+116C>G rs148459081 0.00791
NM_003922.4(HERC1):c.7847-167T>C rs148793071 0.00786
NM_003922.4(HERC1):c.3346+154G>A rs73450258 0.00782
NM_003922.4(HERC1):c.8555+233G>A rs79092379 0.00782
NM_003922.4(HERC1):c.570C>T (p.Asn190=) rs2228514 0.00777
NM_003922.4(HERC1):c.12967-44C>T rs116326284 0.00770
NM_003922.4(HERC1):c.13106-194C>T rs144162223 0.00769
NM_003922.4(HERC1):c.8207-259A>G rs80096136 0.00759
NM_003922.4(HERC1):c.9170+29C>T rs116147545 0.00758
NM_003922.4(HERC1):c.2219+104A>T rs114168463 0.00756
NM_003922.4(HERC1):c.9424+131C>G rs78277310 0.00751
NM_003922.4(HERC1):c.3346+225C>T rs141447564 0.00750
NM_003922.4(HERC1):c.5938-217G>A rs138447978 0.00749
NM_003922.4(HERC1):c.3347-88T>C rs146756256 0.00748
NM_003922.4(HERC1):c.6549+77A>G rs150155057 0.00748
NM_003922.4(HERC1):c.4905+318G>A rs145021293 0.00737
NM_003922.4(HERC1):c.1026+222T>A rs79490559 0.00716
NM_003922.4(HERC1):c.2521-20C>T rs78084910 0.00704
NM_003922.4(HERC1):c.8045+264C>A rs76892063 0.00675
NM_003922.4(HERC1):c.8902-143G>C rs74566370 0.00673
NM_003922.4(HERC1):c.10291-329C>T rs138325997 0.00648
NM_003922.4(HERC1):c.3565T>C (p.Leu1189=) rs2228519 0.00646
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=) rs76114496 0.00627
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His) rs143508709 0.00573
NM_003922.4(HERC1):c.13276-96C>T rs150872039 0.00555
NM_003922.4(HERC1):c.3979-242C>T rs140305651 0.00555
NM_003922.4(HERC1):c.13716C>T (p.Leu4572=) rs61751108 0.00553
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_003922.4(HERC1):c.10786C>T (p.Pro3596Ser) rs115732707 0.00551
NM_003922.4(HERC1):c.1101T>C (p.Ile367=) rs35163901 0.00550
NM_003922.4(HERC1):c.2694C>T (p.His898=) rs78998206 0.00533
NM_003922.4(HERC1):c.12093+314C>T rs78962982 0.00521
NM_003922.4(HERC1):c.6225+92_6225+93insG rs201368473 0.00512
NM_003922.4(HERC1):c.8446G>A (p.Ala2816Thr) rs35122568 0.00507
NM_003922.4(HERC1):c.8045+260T>G rs115860661 0.00506
NM_003922.4(HERC1):c.4232G>T (p.Gly1411Val) rs36089909 0.00505
NM_003922.4(HERC1):c.1631-137G>A rs115797572 0.00504
NM_003922.4(HERC1):c.2520+39C>T rs75638392 0.00504
NM_003922.4(HERC1):c.6225+4C>T rs141414233 0.00475
NM_003922.4(HERC1):c.2869-5T>C rs61751109 0.00460
NM_003922.4(HERC1):c.10878+71A>G rs116393001 0.00449
NM_003922.4(HERC1):c.5674+180A>T rs145086846 0.00439
NM_003922.4(HERC1):c.1774+81A>G rs182477523 0.00416
NM_003922.4(HERC1):c.9870+26C>T rs199679380 0.00401
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
NM_003922.4(HERC1):c.4636+205C>T rs78738976 0.00326
NM_003922.4(HERC1):c.12797-139T>C rs77885398 0.00318
NM_003922.4(HERC1):c.3568+197C>G rs145989941 0.00297
NM_003922.4(HERC1):c.6550-305C>T rs188892151 0.00295
NM_003922.4(HERC1):c.11967+8A>C rs149825836 0.00292
NM_003922.4(HERC1):c.1128T>C (p.Val376=) rs61751110 0.00289
NM_003922.4(HERC1):c.11185-47T>C rs139372260 0.00269
NM_003922.4(HERC1):c.10747+30G>A rs146479868 0.00264
NM_003922.4(HERC1):c.-26-167A>G rs182879560 0.00263
NM_003922.4(HERC1):c.9493G>T (p.Ala3165Ser) rs80032429 0.00223
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_003922.4(HERC1):c.4845T>C (p.Ser1615=) rs183519177 0.00213
NM_003922.4(HERC1):c.10547-7C>T rs192840076 0.00205
NM_003922.4(HERC1):c.6776G>A (p.Arg2259His) rs112791137 0.00183
NM_003922.4(HERC1):c.2580G>A (p.Arg860=) rs192526843 0.00180
NM_003922.4(HERC1):c.7803T>C (p.Val2601=) rs147694097 0.00178
NM_003922.4(HERC1):c.8964C>T (p.Val2988=) rs2229748 0.00161
NM_003922.4(HERC1):c.6159C>T (p.His2053=) rs115606097 0.00151
NM_003922.4(HERC1):c.6057C>T (p.Gly2019=) rs201690555 0.00140
NM_003922.4(HERC1):c.999C>T (p.Tyr333=) rs200680431 0.00132
NM_003922.4(HERC1):c.9144C>T (p.Thr3048=) rs80201845 0.00126
NM_003922.4(HERC1):c.10878+21C>T rs141097490 0.00125
NM_003922.4(HERC1):c.7420A>G (p.Ser2474Gly) rs138052173 0.00124
NM_003922.4(HERC1):c.11231G>A (p.Arg3744Gln) rs200742146 0.00099
NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg) rs185430973 0.00097
NM_003922.4(HERC1):c.12967-4C>G rs374953824 0.00096
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met) rs201387092 0.00086
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=) rs182614197 0.00081
NM_003922.4(HERC1):c.12096C>T (p.Val4032=) rs370890182 0.00078
NM_003922.4(HERC1):c.4483G>A (p.Glu1495Lys) rs201335263 0.00065
NM_003922.4(HERC1):c.7440A>G (p.Gln2480=) rs199635033 0.00064
NM_003922.4(HERC1):c.14280G>A (p.Thr4760=) rs200151191 0.00063
NM_003922.4(HERC1):c.10291-9C>A rs374631238 0.00052
NM_003922.4(HERC1):c.3870T>G (p.Gly1290=) rs148128516 0.00051
NM_003922.4(HERC1):c.10418+17C>T rs369039465 0.00046
NM_003922.4(HERC1):c.13688+11C>T rs143397892 0.00044
NM_003922.4(HERC1):c.261A>G (p.Leu87=) rs369971353 0.00044
NM_003922.4(HERC1):c.5409T>A (p.Gly1803=) rs200252549 0.00044
NM_003922.4(HERC1):c.5592C>T (p.Phe1864=) rs377348535 0.00036
NM_003922.4(HERC1):c.8681-5C>T rs767479930 0.00031
NM_003922.4(HERC1):c.2427G>A (p.Gly809=) rs200386807 0.00030
NM_003922.4(HERC1):c.5325C>T (p.Ser1775=) rs147588494 0.00028
NM_003922.4(HERC1):c.5314T>C (p.Leu1772=) rs371264866 0.00027
NM_003922.4(HERC1):c.8523T>C (p.Asp2841=) rs200169757 0.00026
NM_003922.4(HERC1):c.14244T>C (p.Asp4748=) rs201870026 0.00025
NM_003922.4(HERC1):c.14094+8G>A rs374359281 0.00022
NM_003922.4(HERC1):c.10851A>G (p.Gly3617=) rs367971124 0.00017
NM_003922.4(HERC1):c.11049A>G (p.Lys3683=) rs375135750 0.00017
NM_003922.4(HERC1):c.11433+15dup rs763955176 0.00017
NM_003922.4(HERC1):c.300C>T (p.Ala100=) rs147377413 0.00017
NM_003922.4(HERC1):c.6396T>C (p.Thr2132=) rs376905628 0.00014
NM_003922.4(HERC1):c.5480+8T>C rs746165548 0.00013
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr) rs201312041 0.00013
NM_003922.4(HERC1):c.7776G>A (p.Ala2592=) rs777515838 0.00012
NM_003922.4(HERC1):c.13047G>A (p.Ser4349=) rs183761136 0.00011
NM_003922.4(HERC1):c.7389C>T (p.Ile2463=) rs374567563 0.00010
NM_003922.4(HERC1):c.8814G>A (p.Ala2938=) rs148095131 0.00010
NM_003922.4(HERC1):c.1221+10C>G rs575134814 0.00009
NM_003922.4(HERC1):c.9468G>A (p.Thr3156=) rs369893822 0.00009
NM_003922.4(HERC1):c.12966+8T>G rs368376049 0.00008
NM_003922.4(HERC1):c.5862G>A (p.Arg1954=) rs764966473 0.00008
NM_003922.4(HERC1):c.5937+12T>C rs553960244 0.00008
NM_003922.4(HERC1):c.8520T>G (p.Ala2840=) rs377560628 0.00008
NM_003922.4(HERC1):c.12501T>A (p.Gly4167=) rs546029760 0.00007
NM_003922.4(HERC1):c.4653A>G (p.Gln1551=) rs367981307 0.00007
NM_003922.4(HERC1):c.6564T>C (p.Asp2188=) rs201044362 0.00006
NM_003922.4(HERC1):c.6855G>A (p.Arg2285=) rs371979138 0.00006
NM_003922.4(HERC1):c.9425-19A>G rs370373342 0.00006
NM_003922.4(HERC1):c.4320T>G (p.Ala1440=) rs199602197 0.00005
NM_003922.4(HERC1):c.5340C>T (p.Asn1780=) rs374580110 0.00005
NM_003922.4(HERC1):c.8324-6G>C rs772572130 0.00005
NM_003922.4(HERC1):c.12357C>T (p.Ser4119=) rs376591272 0.00004
NM_003922.4(HERC1):c.4238G>A (p.Arg1413Gln) rs546366711 0.00004
NM_003922.4(HERC1):c.12510T>C (p.Asn4170=) rs370489543 0.00003
NM_003922.4(HERC1):c.3258C>G (p.Leu1086=) rs530606514 0.00003
NM_003922.4(HERC1):c.5025G>A (p.Thr1675=) rs377147575 0.00003
NM_003922.4(HERC1):c.5938-7A>G rs777918941 0.00003
NM_003922.4(HERC1):c.10821A>G (p.Leu3607=) rs375114477 0.00002
NM_003922.4(HERC1):c.11901+13T>G rs767148510 0.00002
NM_003922.4(HERC1):c.13326A>G (p.Gln4442=) rs377137482 0.00002
NM_003922.4(HERC1):c.13533G>A (p.Ala4511=) rs765869181 0.00002
NM_003922.4(HERC1):c.14139G>A (p.Pro4713=) rs149568447 0.00002
NM_003922.4(HERC1):c.14520C>T (p.Ile4840=) rs759762640 0.00002
NM_003922.4(HERC1):c.1534-10T>C rs373223059 0.00002
NM_003922.4(HERC1):c.1671A>G (p.Val557=) rs767997243 0.00002
NM_003922.4(HERC1):c.246T>C (p.Leu82=) rs763076398 0.00002
NM_003922.4(HERC1):c.5049A>G (p.Ala1683=) rs774818372 0.00002
NM_003922.4(HERC1):c.7158A>C (p.Arg2386=) rs751584731 0.00002
NM_003922.4(HERC1):c.10155A>G (p.Gln3385=) rs538333871 0.00001
NM_003922.4(HERC1):c.1026+7A>G rs775031356 0.00001
NM_003922.4(HERC1):c.1068C>T (p.Ser356=) rs1596172864 0.00001
NM_003922.4(HERC1):c.11185-17A>C rs757611030 0.00001
NM_003922.4(HERC1):c.13164G>A (p.Ala4388=) rs752398916 0.00001
NM_003922.4(HERC1):c.13276-11T>C rs1179345774 0.00001
NM_003922.4(HERC1):c.13942-4C>G rs761797214 0.00001
NM_003922.4(HERC1):c.14100T>C (p.Ala4700=) rs774921258 0.00001
NM_003922.4(HERC1):c.1686T>C (p.Asn562=) rs1314095129 0.00001
NM_003922.4(HERC1):c.2310T>C (p.Asp770=) rs941059365 0.00001
NM_003922.4(HERC1):c.2319C>T (p.Asn773=) rs901441145 0.00001
NM_003922.4(HERC1):c.2496A>G (p.Ser832=) rs190240303 0.00001
NM_003922.4(HERC1):c.2775A>G (p.Ser925=) rs369156361 0.00001
NM_003922.4(HERC1):c.3979-16T>C rs2073561723 0.00001
NM_003922.4(HERC1):c.4332C>T (p.Ser1444=) rs568211755 0.00001
NM_003922.4(HERC1):c.4620A>G (p.Ala1540=) rs1270179972 0.00001
NM_003922.4(HERC1):c.5454G>A (p.Leu1818=) rs746133935 0.00001
NM_003922.4(HERC1):c.5916A>T (p.Val1972=) rs771839545 0.00001
NM_003922.4(HERC1):c.5964C>G (p.Leu1988=) rs181383179 0.00001
NM_003922.4(HERC1):c.7056A>G (p.Ala2352=) rs745583638 0.00001
NM_003922.4(HERC1):c.7105T>C (p.Leu2369=) rs934610156 0.00001
NM_003922.4(HERC1):c.7170T>C (p.Ala2390=) rs762145494 0.00001
NM_003922.4(HERC1):c.8841G>C (p.Leu2947=) rs749916084 0.00001
NM_003922.4(HERC1):c.9847C>T (p.Leu3283=) rs771682229 0.00001
NM_003922.4(HERC1):c.996T>C (p.Leu332=) rs199983480 0.00001
NM_003922.4(HERC1):c.-26-337G>A rs192400762
NM_003922.4(HERC1):c.10026A>G (p.Leu3342=)
NM_003922.4(HERC1):c.10054A>G (p.Asn3352Asp)
NM_003922.4(HERC1):c.10084+13C>T
NM_003922.4(HERC1):c.10085-5T>C
NM_003922.4(HERC1):c.10085-6_10085-4del
NM_003922.4(HERC1):c.10176G>A (p.Val3392=)
NM_003922.4(HERC1):c.10218G>C (p.Leu3406=)
NM_003922.4(HERC1):c.10251A>G (p.Arg3417=)
NM_003922.4(HERC1):c.1026+13C>A
NM_003922.4(HERC1):c.10290+16G>A
NM_003922.4(HERC1):c.1033A>C (p.Arg345=)
NM_003922.4(HERC1):c.10359C>T (p.Arg3453=)
NM_003922.4(HERC1):c.10407G>A (p.Val3469=) rs369327928
NM_003922.4(HERC1):c.10418+10A>G
NM_003922.4(HERC1):c.10418+18G>A
NM_003922.4(HERC1):c.10446A>T (p.Gly3482=) rs1595894811
NM_003922.4(HERC1):c.10452C>A (p.Pro3484=)
NM_003922.4(HERC1):c.10452C>T (p.Pro3484=)
NM_003922.4(HERC1):c.10479C>T (p.Ser3493=)
NM_003922.4(HERC1):c.10500T>C (p.Tyr3500=)
NM_003922.4(HERC1):c.10509C>T (p.Gly3503=)
NM_003922.4(HERC1):c.10547-122T>A rs115845090
NM_003922.4(HERC1):c.1059A>G (p.Thr353=)
NM_003922.4(HERC1):c.10614G>A (p.Pro3538=)
NM_003922.4(HERC1):c.10641A>G (p.Pro3547=) rs2069577423
NM_003922.4(HERC1):c.10671A>C (p.Gly3557=)
NM_003922.4(HERC1):c.10747+14C>T
NM_003922.4(HERC1):c.10748-152C>G rs116174450
NM_003922.4(HERC1):c.10911A>C (p.Thr3637=) rs1595884613
NM_003922.4(HERC1):c.10956C>G (p.Leu3652=) rs2152859576
NM_003922.4(HERC1):c.11078+12A>G
NM_003922.4(HERC1):c.11136C>G (p.Thr3712=)
NM_003922.4(HERC1):c.11178T>C (p.Asn3726=)
NM_003922.4(HERC1):c.11185-276G>A rs147329416
NM_003922.4(HERC1):c.11227C>T (p.Leu3743=) rs1433758692
NM_003922.4(HERC1):c.11331+12G>T
NM_003922.4(HERC1):c.11385A>G (p.Thr3795=)
NM_003922.4(HERC1):c.11433+13T>G
NM_003922.4(HERC1):c.11434-17G>C
NM_003922.4(HERC1):c.11475C>T (p.Ala3825=) rs1595877594
NM_003922.4(HERC1):c.11556A>G (p.Ala3852=)
NM_003922.4(HERC1):c.11607+16C>T
NM_003922.4(HERC1):c.11631A>G (p.Gln3877=)
NM_003922.4(HERC1):c.11646C>G (p.Pro3882=)
NM_003922.4(HERC1):c.11745C>T (p.Asp3915=)
NM_003922.4(HERC1):c.11754C>G (p.Ser3918=)
NM_003922.4(HERC1):c.11766T>C (p.Asn3922=)
NM_003922.4(HERC1):c.11853C>T (p.Thr3951=) rs375981726
NM_003922.4(HERC1):c.11880G>A (p.Glu3960=)
NM_003922.4(HERC1):c.1188C>G (p.Pro396=)
NM_003922.4(HERC1):c.11901+7G>A
NM_003922.4(HERC1):c.11910T>C (p.Ser3970=) rs2152831824
NM_003922.4(HERC1):c.1191A>G (p.Lys397=)
NM_003922.4(HERC1):c.11968-18A>G
NM_003922.4(HERC1):c.11976C>T (p.His3992=)
NM_003922.4(HERC1):c.12030G>A (p.Leu4010=)
NM_003922.4(HERC1):c.12093+12G>C
NM_003922.4(HERC1):c.12094-17C>T
NM_003922.4(HERC1):c.12094-7A>G
NM_003922.4(HERC1):c.12145T>C (p.Leu4049=)
NM_003922.4(HERC1):c.1221+7T>C
NM_003922.4(HERC1):c.12232+17T>C
NM_003922.4(HERC1):c.12252G>C (p.Leu4084=)
NM_003922.4(HERC1):c.12324T>C (p.Asp4108=)
NM_003922.4(HERC1):c.12345C>T (p.Gly4115=)
NM_003922.4(HERC1):c.12384C>T (p.Ile4128=)
NM_003922.4(HERC1):c.12402A>G (p.Glu4134=) rs772950258
NM_003922.4(HERC1):c.12415-140A>T rs142553976
NM_003922.4(HERC1):c.12415-17C>T
NM_003922.4(HERC1):c.12513C>G (p.Thr4171=)
NM_003922.4(HERC1):c.12555A>G (p.Gly4185=)
NM_003922.4(HERC1):c.12571-13_12571-11del rs373138757
NM_003922.4(HERC1):c.12796+17C>T
NM_003922.4(HERC1):c.12797-18_12797-17dup
NM_003922.4(HERC1):c.1281C>T (p.Cys427=)
NM_003922.4(HERC1):c.12954T>C (p.Asn4318=)
NM_003922.4(HERC1):c.12966+20G>C
NM_003922.4(HERC1):c.12967-140_12967-139del rs35700814
NM_003922.4(HERC1):c.12967-198G>T rs189168131
NM_003922.4(HERC1):c.12967-19A>G
NM_003922.4(HERC1):c.12984C>G (p.Thr4328=)
NM_003922.4(HERC1):c.13017T>A (p.Gly4339=)
NM_003922.4(HERC1):c.13106-8C>T
NM_003922.4(HERC1):c.1314A>G (p.Gly438=)
NM_003922.4(HERC1):c.13176C>A (p.Val4392=)
NM_003922.4(HERC1):c.13188G>A (p.Thr4396=)
NM_003922.4(HERC1):c.13276-16G>A
NM_003922.4(HERC1):c.13276-20A>T
NM_003922.4(HERC1):c.13293T>C (p.Tyr4431=)
NM_003922.4(HERC1):c.13311C>G (p.Gly4437=)
NM_003922.4(HERC1):c.13428A>G (p.Val4476=)
NM_003922.4(HERC1):c.13473C>T (p.Val4491=) rs267604281
NM_003922.4(HERC1):c.13612-14T>A
NM_003922.4(HERC1):c.13662C>T (p.Thr4554=)
NM_003922.4(HERC1):c.13677C>T (p.Tyr4559=)
NM_003922.4(HERC1):c.13725C>T (p.His4575=)
NM_003922.4(HERC1):c.1374A>G (p.Lys458=)
NM_003922.4(HERC1):c.13941+12C>A
NM_003922.4(HERC1):c.13941+19A>G
NM_003922.4(HERC1):c.13942-12T>G
NM_003922.4(HERC1):c.13942-17T>C
NM_003922.4(HERC1):c.13968C>T (p.Gly4656=)
NM_003922.4(HERC1):c.14073A>T (p.Arg4691=)
NM_003922.4(HERC1):c.14094+18G>A
NM_003922.4(HERC1):c.14095-12T>C
NM_003922.4(HERC1):c.14095-9C>T
NM_003922.4(HERC1):c.14307G>T (p.Arg4769=)
NM_003922.4(HERC1):c.14400+12A>T
NM_003922.4(HERC1):c.14400+8A>G rs1595811338
NM_003922.4(HERC1):c.14400+8dup
NM_003922.4(HERC1):c.14401-20del
NM_003922.4(HERC1):c.1443T>C (p.Ser481=)
NM_003922.4(HERC1):c.14571C>T (p.Ser4857=)
NM_003922.4(HERC1):c.1491A>C (p.Thr497=)
NM_003922.4(HERC1):c.1535T>C (p.Val512Ala)
NM_003922.4(HERC1):c.1631-6T>C
NM_003922.4(HERC1):c.1635T>C (p.His545=)
NM_003922.4(HERC1):c.168C>T (p.Cys56=)
NM_003922.4(HERC1):c.1774+17_1774+20del
NM_003922.4(HERC1):c.1775-12T>G
NM_003922.4(HERC1):c.1775-16G>A
NM_003922.4(HERC1):c.1775-4dup
NM_003922.4(HERC1):c.1815T>A (p.Pro605=)
NM_003922.4(HERC1):c.1839A>C (p.Gly613=)
NM_003922.4(HERC1):c.1903-20C>G
NM_003922.4(HERC1):c.1947A>C (p.Ser649=)
NM_003922.4(HERC1):c.195T>C (p.Phe65=) rs1596222829
NM_003922.4(HERC1):c.1968C>G (p.Pro656=)
NM_003922.4(HERC1):c.2088A>G (p.Gln696=)
NM_003922.4(HERC1):c.2178A>T (p.Gly726=)
NM_003922.4(HERC1):c.2211T>A (p.Pro737=) rs538246830
NM_003922.4(HERC1):c.2220-13T>C
NM_003922.4(HERC1):c.2355-16G>C
NM_003922.4(HERC1):c.2463A>G (p.Pro821=)
NM_003922.4(HERC1):c.2520+11A>G
NM_003922.4(HERC1):c.252C>T (p.Ser84=)
NM_003922.4(HERC1):c.2598T>C (p.Ser866=)
NM_003922.4(HERC1):c.2646+18G>A
NM_003922.4(HERC1):c.2646+259_2646+260del rs144821959
NM_003922.4(HERC1):c.2647-20C>T
NM_003922.4(HERC1):c.2682A>G (p.Gln894=) rs1469981594
NM_003922.4(HERC1):c.2721A>T (p.Ser907=)
NM_003922.4(HERC1):c.2742A>G (p.Leu914=)
NM_003922.4(HERC1):c.2823T>A (p.Ala941=)
NM_003922.4(HERC1):c.2869-51_2869-46del rs143268967
NM_003922.4(HERC1):c.2985G>A (p.Gln995=) rs1417977535
NM_003922.4(HERC1):c.3015T>C (p.Ile1005=)
NM_003922.4(HERC1):c.3018T>C (p.Ser1006=)
NM_003922.4(HERC1):c.3021+17C>G
NM_003922.4(HERC1):c.3021+19T>C
NM_003922.4(HERC1):c.3040T>C (p.Leu1014=)
NM_003922.4(HERC1):c.3154+282_3154+284dup rs375000040
NM_003922.4(HERC1):c.3154+282dup rs375000040
NM_003922.4(HERC1):c.3154+297dup rs200853874
NM_003922.4(HERC1):c.3155-7T>C rs2140867382
NM_003922.4(HERC1):c.3155-8C>G
NM_003922.4(HERC1):c.3171A>G (p.Ser1057=)
NM_003922.4(HERC1):c.3207C>T (p.Ser1069=) rs758728472
NM_003922.4(HERC1):c.3402C>T (p.Ser1134=)
NM_003922.4(HERC1):c.3540C>T (p.Asp1180=)
NM_003922.4(HERC1):c.3568+7T>C
NM_003922.4(HERC1):c.3569-14A>T
NM_003922.4(HERC1):c.3569-17G>A
NM_003922.4(HERC1):c.3742+8_3742+10del rs2073894448
NM_003922.4(HERC1):c.3743-14A>G
NM_003922.4(HERC1):c.3744T>C (p.Asp1248=) rs772866452
NM_003922.4(HERC1):c.3843A>T (p.Ala1281=)
NM_003922.4(HERC1):c.3876C>T (p.His1292=)
NM_003922.4(HERC1):c.3957G>A (p.Arg1319=)
NM_003922.4(HERC1):c.3972C>T (p.Asp1324=)
NM_003922.4(HERC1):c.3978+20_3978+23del
NM_003922.4(HERC1):c.3978+76dup rs202016769
NM_003922.4(HERC1):c.4002A>G (p.Ala1334=)
NM_003922.4(HERC1):c.4150+16T>C
NM_003922.4(HERC1):c.4254T>C (p.Pro1418=)
NM_003922.4(HERC1):c.4272G>A (p.Glu1424=)
NM_003922.4(HERC1):c.4341T>C (p.His1447=)
NM_003922.4(HERC1):c.4395G>A (p.Lys1465=)
NM_003922.4(HERC1):c.4463+12_4463+16del
NM_003922.4(HERC1):c.4464-15G>T rs116375944
NM_003922.4(HERC1):c.4464-15del
NM_003922.4(HERC1):c.4464-16del rs369792267
NM_003922.4(HERC1):c.4464-25_4464-24dup rs369792267
NM_003922.4(HERC1):c.4464-25dup rs369792267
NM_003922.4(HERC1):c.4530G>A (p.Ser1510=)
NM_003922.4(HERC1):c.4578C>T (p.Tyr1526=)
NM_003922.4(HERC1):c.4654T>C (p.Leu1552=)
NM_003922.4(HERC1):c.4692T>C (p.His1564=)
NM_003922.4(HERC1):c.4905+19C>T
NM_003922.4(HERC1):c.4905+19_4905+20insA
NM_003922.4(HERC1):c.4905+291_4905+292dup rs57040637
NM_003922.4(HERC1):c.4906-8T>A
NM_003922.4(HERC1):c.4941A>G (p.Leu1647=)
NM_003922.4(HERC1):c.498A>C (p.Leu166=) rs757221928
NM_003922.4(HERC1):c.5043_5044delinsTG (p.Leu1682Val)
NM_003922.4(HERC1):c.513G>A (p.Ala171=)
NM_003922.4(HERC1):c.5157T>A (p.Ile1719=)
NM_003922.4(HERC1):c.519A>G (p.Leu173=)
NM_003922.4(HERC1):c.5242+10C>T
NM_003922.4(HERC1):c.5242+75A>G
NM_003922.4(HERC1):c.5243-14T>C
NM_003922.4(HERC1):c.5262T>G (p.Leu1754=)
NM_003922.4(HERC1):c.5334G>C (p.Leu1778=)
NM_003922.4(HERC1):c.5353T>C (p.Leu1785=)
NM_003922.4(HERC1):c.5370C>T (p.Thr1790=)
NM_003922.4(HERC1):c.5409T>C (p.Gly1803=)
NM_003922.4(HERC1):c.5481-16C>G
NM_003922.4(HERC1):c.5655T>C (p.Thr1885=) rs775725934
NM_003922.4(HERC1):c.5674+14C>G
NM_003922.4(HERC1):c.5736C>T (p.Arg1912=)
NM_003922.4(HERC1):c.5781A>T (p.Pro1927=)
NM_003922.4(HERC1):c.5802A>G (p.Leu1934=)
NM_003922.4(HERC1):c.5831-8C>T
NM_003922.4(HERC1):c.588A>C (p.Ala196=)
NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)
NM_003922.4(HERC1):c.6006T>C (p.His2002=)
NM_003922.4(HERC1):c.6096A>G (p.Glu2032=)
NM_003922.4(HERC1):c.6132A>C (p.Leu2044=)
NM_003922.4(HERC1):c.6177A>G (p.Gly2059=)
NM_003922.4(HERC1):c.621A>G (p.Ser207=)
NM_003922.4(HERC1):c.6465+12C>T
NM_003922.4(HERC1):c.6465+46del rs201668548
NM_003922.4(HERC1):c.6466-14C>A
NM_003922.4(HERC1):c.6498A>C (p.Ala2166=)
NM_003922.4(HERC1):c.6550-18C>G
NM_003922.4(HERC1):c.6585C>G (p.Pro2195=)
NM_003922.4(HERC1):c.6723T>C (p.Leu2241=)
NM_003922.4(HERC1):c.6876A>G (p.Ser2292=)
NM_003922.4(HERC1):c.6915C>A (p.Pro2305=)
NM_003922.4(HERC1):c.6915C>T (p.Pro2305=)
NM_003922.4(HERC1):c.7026C>T (p.Ser2342=)
NM_003922.4(HERC1):c.7029G>A (p.Thr2343=)
NM_003922.4(HERC1):c.7104A>G (p.Pro2368=) rs773997240
NM_003922.4(HERC1):c.7148C>T (p.Ala2383Val) rs531415921
NM_003922.4(HERC1):c.7278G>C (p.Gly2426=)
NM_003922.4(HERC1):c.7344C>T (p.Asp2448=)
NM_003922.4(HERC1):c.7383T>C (p.Asn2461=)
NM_003922.4(HERC1):c.7395A>G (p.Ser2465=)
NM_003922.4(HERC1):c.7587T>C (p.Ala2529=)
NM_003922.4(HERC1):c.7605A>G (p.Pro2535=)
NM_003922.4(HERC1):c.7638C>T (p.Asp2546=)
NM_003922.4(HERC1):c.7668C>T (p.Asp2556=)
NM_003922.4(HERC1):c.7731G>A (p.Arg2577=)
NM_003922.4(HERC1):c.7846+105dup rs942301251
NM_003922.4(HERC1):c.7846+156_7846+159del rs201277582
NM_003922.4(HERC1):c.7846+27del rs111577041
NM_003922.4(HERC1):c.7846+92dup rs1228332525
NM_003922.4(HERC1):c.7846+9T>C
NM_003922.4(HERC1):c.7847-8G>A
NM_003922.4(HERC1):c.7974C>G (p.Thr2658=) rs1595938941
NM_003922.4(HERC1):c.8007A>G (p.Ala2669=)
NM_003922.4(HERC1):c.8040T>G (p.Leu2680=)
NM_003922.4(HERC1):c.8045+13A>G
NM_003922.4(HERC1):c.8045+19A>C
NM_003922.4(HERC1):c.8045+234C>T rs10152416
NM_003922.4(HERC1):c.8045+9G>C
NM_003922.4(HERC1):c.8046-17C>T
NM_003922.4(HERC1):c.8046-19C>T
NM_003922.4(HERC1):c.8199C>T (p.Asn2733=)
NM_003922.4(HERC1):c.8206+20C>T
NM_003922.4(HERC1):c.8206+7G>A
NM_003922.4(HERC1):c.8206+7G>C
NM_003922.4(HERC1):c.8207-12C>T
NM_003922.4(HERC1):c.822T>C (p.Ala274=)
NM_003922.4(HERC1):c.825G>A (p.Ser275=) rs2076071176
NM_003922.4(HERC1):c.8268C>G (p.Pro2756=)
NM_003922.4(HERC1):c.8271G>A (p.Leu2757=)
NM_003922.4(HERC1):c.8283G>A (p.Gly2761=)
NM_003922.4(HERC1):c.8361C>T (p.Val2787=)
NM_003922.4(HERC1):c.8367C>T (p.Ala2789=)
NM_003922.4(HERC1):c.8418G>A (p.Ser2806=)
NM_003922.4(HERC1):c.8484C>T (p.Pro2828=)
NM_003922.4(HERC1):c.8541A>G (p.Glu2847=)
NM_003922.4(HERC1):c.8555+12G>A
NM_003922.4(HERC1):c.8556-8A>T
NM_003922.4(HERC1):c.8631A>G (p.Thr2877=)
NM_003922.4(HERC1):c.8745G>A (p.Gln2915=) rs2152935962
NM_003922.4(HERC1):c.8832A>G (p.Gly2944=) rs1595918910
NM_003922.4(HERC1):c.8886G>A (p.Leu2962=) rs2152935633
NM_003922.4(HERC1):c.8901+17C>T
NM_003922.4(HERC1):c.8907T>G (p.Val2969=)
NM_003922.4(HERC1):c.8976T>C (p.Asn2992=)
NM_003922.4(HERC1):c.8979G>A (p.Gln2993=)
NM_003922.4(HERC1):c.8982C>T (p.His2994=)
NM_003922.4(HERC1):c.9069C>T (p.Gly3023=)
NM_003922.4(HERC1):c.9093G>C (p.Pro3031=)
NM_003922.4(HERC1):c.9102G>A (p.Leu3034=)
NM_003922.4(HERC1):c.9170+16G>A
NM_003922.4(HERC1):c.9223+20T>G
NM_003922.4(HERC1):c.9223+241G>T rs145139618
NM_003922.4(HERC1):c.9224-154C>T rs73441955
NM_003922.4(HERC1):c.9224-18T>C
NM_003922.4(HERC1):c.9228C>T (p.Asp3076=)
NM_003922.4(HERC1):c.924T>C (p.Arg308=)
NM_003922.4(HERC1):c.9267T>G (p.Thr3089=) rs1595912217
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
NM_003922.4(HERC1):c.9300G>A (p.Pro3100=)
NM_003922.4(HERC1):c.931-18G>A
NM_003922.4(HERC1):c.931-18G>T
NM_003922.4(HERC1):c.931-19C>G
NM_003922.4(HERC1):c.9360A>G (p.Pro3120=)
NM_003922.4(HERC1):c.9424+20T>C
NM_003922.4(HERC1):c.9425-8T>G
NM_003922.4(HERC1):c.9579G>A (p.Ala3193=)
NM_003922.4(HERC1):c.9600-4G>T
NM_003922.4(HERC1):c.9656G>A (p.Arg3219Gln)
NM_003922.4(HERC1):c.9729T>A (p.Ala3243=)
NM_003922.4(HERC1):c.9735C>T (p.Thr3245=)
NM_003922.4(HERC1):c.9738A>G (p.Ser3246=)
NM_003922.4(HERC1):c.975A>G (p.Thr325=)
NM_003922.4(HERC1):c.9792C>T (p.Ala3264=)
NM_003922.4(HERC1):c.981T>C (p.Asp327=)
NM_003922.4(HERC1):c.9859T>C (p.Leu3287=)
NM_003922.4(HERC1):c.9870+15G>A
NM_003922.4(HERC1):c.9870+8A>C rs1266774549
NM_003922.4(HERC1):c.9885T>G (p.Ala3295=)
NM_003922.4(HERC1):c.9984C>G (p.Thr3328=)

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.