ClinVar Miner

List of variants in gene HERC1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 362
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
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.6776G>A (p.Arg2259His) rs112791137 0.00183
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.7440A>G (p.Gln2480=) rs199635033 0.00064
NM_003922.4(HERC1):c.14280G>A (p.Thr4760=) rs200151191 0.00063
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.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.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.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.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.11646C>G (p.Pro3882=)
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.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.12415-17C>T
NM_003922.4(HERC1):c.12513C>G (p.Thr4171=)
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.12967-19A>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.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.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.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.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.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.3155-7T>C rs2140867382
NM_003922.4(HERC1):c.3155-8C>G
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.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.4464-15del
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.4905+19C>T
NM_003922.4(HERC1):c.4905+19_4905+20insA
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.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.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.6006T>C (p.His2002=)
NM_003922.4(HERC1):c.6096A>G (p.Glu2032=)
NM_003922.4(HERC1):c.6177A>G (p.Gly2059=)
NM_003922.4(HERC1):c.6465+12C>T
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+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.8045+13A>G
NM_003922.4(HERC1):c.8045+19A>C
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.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.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.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.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.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.9424+20T>C
NM_003922.4(HERC1):c.9425-8T>G
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.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.