ClinVar Miner

List of variants in gene HERC2 reported by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) rs139953376 0.00265
NM_004667.6(HERC2):c.4144C>T (p.Arg1382Trp) rs200412833 0.00152
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr) rs146558015 0.00137
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) rs200864382 0.00044
NM_004667.6(HERC2):c.2766C>G (p.Asn922Lys) rs139868155 0.00039
NM_004667.6(HERC2):c.11541T>G (p.Phe3847Leu) rs377666529 0.00036
NM_004667.6(HERC2):c.10747-4C>T rs374553780 0.00028
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) rs140440992 0.00024
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) rs138177581 0.00023
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) rs185865505 0.00021
NM_004667.6(HERC2):c.6373C>T (p.Arg2125Trp) rs373696705 0.00021
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro) rs142254143 0.00017
NM_004667.6(HERC2):c.14015C>T (p.Thr4672Met) rs144912188 0.00014
NM_004667.6(HERC2):c.8305C>T (p.Arg2769Cys) rs141210218 0.00010
NM_004667.6(HERC2):c.9110G>A (p.Arg3037Gln) rs369787802 0.00009
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) rs140073033 0.00007
NM_004667.6(HERC2):c.1411C>T (p.Arg471Cys) rs768897624 0.00006
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr) rs923003032 0.00006
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587 0.00005
NM_004667.6(HERC2):c.11698G>A (p.Glu3900Lys) rs369782972 0.00004
NM_004667.6(HERC2):c.13234C>G (p.Arg4412Gly) rs747054677 0.00004
NM_004667.6(HERC2):c.254A>G (p.Glu85Gly) rs765598082 0.00004
NM_004667.6(HERC2):c.3629T>C (p.Ile1210Thr) rs545686064 0.00004
NM_004667.6(HERC2):c.7576G>A (p.Glu2526Lys) rs551973035 0.00003
NM_004667.6(HERC2):c.922T>G (p.Ser308Ala) rs534209639 0.00003
NM_004667.6(HERC2):c.5402A>G (p.Asn1801Ser) rs774628091 0.00002
NM_004667.6(HERC2):c.6379A>G (p.Arg2127Gly) rs771392120 0.00002
NM_004667.6(HERC2):c.7330C>T (p.Arg2444Cys) rs1456731536 0.00002
NM_004667.6(HERC2):c.8312A>T (p.His2771Leu) rs1006141302 0.00002
NM_004667.6(HERC2):c.13046G>A (p.Arg4349His) rs1555401035 0.00001
NM_004667.6(HERC2):c.3071T>C (p.Val1024Ala) rs777481301 0.00001
NM_004667.6(HERC2):c.3549T>G (p.His1183Gln) rs769133410 0.00001
NM_004667.6(HERC2):c.3596A>G (p.Gln1199Arg) rs751326087 0.00001
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.6671T>C (p.Met2224Thr) rs779882033 0.00001
NM_004667.6(HERC2):c.1015C>T (p.Pro339Ser)
NM_004667.6(HERC2):c.10193C>T (p.Ser3398Leu)
NM_004667.6(HERC2):c.1029G>T (p.Arg343Ser)
NM_004667.6(HERC2):c.10315G>A (p.Ala3439Thr)
NM_004667.6(HERC2):c.10460C>T (p.Ser3487Leu)
NM_004667.6(HERC2):c.10499C>T (p.Thr3500Met)
NM_004667.6(HERC2):c.10628C>T (p.Ala3543Val)
NM_004667.6(HERC2):c.10768C>G (p.Leu3590Val)
NM_004667.6(HERC2):c.1078A>G (p.Met360Val)
NM_004667.6(HERC2):c.10874C>T (p.Ser3625Phe)
NM_004667.6(HERC2):c.10999G>A (p.Val3667Met)
NM_004667.6(HERC2):c.11128A>C (p.Met3710Leu)
NM_004667.6(HERC2):c.11306G>C (p.Ser3769Thr)
NM_004667.6(HERC2):c.1135C>G (p.Leu379Val)
NM_004667.6(HERC2):c.11498C>T (p.Pro3833Leu)
NM_004667.6(HERC2):c.11545-6C>T
NM_004667.6(HERC2):c.11716C>G (p.Arg3906Gly)
NM_004667.6(HERC2):c.11737G>A (p.Glu3913Lys)
NM_004667.6(HERC2):c.12014A>C (p.Lys4005Thr)
NM_004667.6(HERC2):c.12037G>A (p.Ala4013Thr)
NM_004667.6(HERC2):c.12157G>T (p.Ala4053Ser)
NM_004667.6(HERC2):c.12223A>C (p.Asn4075His)
NM_004667.6(HERC2):c.12225C>G (p.Asn4075Lys)
NM_004667.6(HERC2):c.12431G>A (p.Arg4144His)
NM_004667.6(HERC2):c.12517G>A (p.Asp4173Asn)
NM_004667.6(HERC2):c.12568A>G (p.Lys4190Glu)
NM_004667.6(HERC2):c.12570+4T>A rs1890172788
NM_004667.6(HERC2):c.12601A>C (p.Lys4201Gln)
NM_004667.6(HERC2):c.12662+4C>T
NM_004667.6(HERC2):c.13007A>G (p.Asn4336Ser)
NM_004667.6(HERC2):c.13157C>T (p.Thr4386Ile)
NM_004667.6(HERC2):c.13163G>A (p.Arg4388Gln)
NM_004667.6(HERC2):c.13387C>T (p.His4463Tyr)
NM_004667.6(HERC2):c.13695G>A (p.Met4565Ile)
NM_004667.6(HERC2):c.13696A>G (p.Ser4566Gly)
NM_004667.6(HERC2):c.13705A>G (p.Ile4569Val)
NM_004667.6(HERC2):c.13711G>T (p.Asp4571Tyr)
NM_004667.6(HERC2):c.13883C>T (p.Ala4628Val)
NM_004667.6(HERC2):c.13907A>G (p.Asn4636Ser)
NM_004667.6(HERC2):c.14020-4G>A
NM_004667.6(HERC2):c.1402C>T (p.Arg468Cys)
NM_004667.6(HERC2):c.14092G>A (p.Ala4698Thr)
NM_004667.6(HERC2):c.14096C>T (p.Ser4699Leu)
NM_004667.6(HERC2):c.14167G>A (p.Val4723Ile)
NM_004667.6(HERC2):c.1420A>G (p.Thr474Ala)
NM_004667.6(HERC2):c.14395A>G (p.Ile4799Val)
NM_004667.6(HERC2):c.14495C>T (p.Thr4832Ile)
NM_004667.6(HERC2):c.1570G>A (p.Gly524Ser)
NM_004667.6(HERC2):c.1577G>A (p.Arg526Gln)
NM_004667.6(HERC2):c.1591G>A (p.Asp531Asn)
NM_004667.6(HERC2):c.170A>C (p.Glu57Ala)
NM_004667.6(HERC2):c.1826C>T (p.Ala609Val)
NM_004667.6(HERC2):c.188A>G (p.Asp63Gly)
NM_004667.6(HERC2):c.2102A>C (p.Lys701Thr)
NM_004667.6(HERC2):c.217A>C (p.Lys73Gln)
NM_004667.6(HERC2):c.238G>A (p.Glu80Lys)
NM_004667.6(HERC2):c.2549C>T (p.Pro850Leu) rs534865714
NM_004667.6(HERC2):c.2686G>A (p.Val896Met)
NM_004667.6(HERC2):c.271A>T (p.Ile91Leu)
NM_004667.6(HERC2):c.2743G>C (p.Ala915Pro)
NM_004667.6(HERC2):c.2767A>G (p.Ile923Val)
NM_004667.6(HERC2):c.3136G>A (p.Glu1046Lys)
NM_004667.6(HERC2):c.3221C>T (p.Thr1074Ile)
NM_004667.6(HERC2):c.3308T>C (p.Ile1103Thr)
NM_004667.6(HERC2):c.3347G>A (p.Arg1116Gln)
NM_004667.6(HERC2):c.34G>T (p.Ala12Ser)
NM_004667.6(HERC2):c.3509G>A (p.Arg1170Gln)
NM_004667.6(HERC2):c.3577+6G>A
NM_004667.6(HERC2):c.3602G>A (p.Cys1201Tyr)
NM_004667.6(HERC2):c.3638C>T (p.Ala1213Val)
NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met)
NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr)
NM_004667.6(HERC2):c.3859C>A (p.Gln1287Lys)
NM_004667.6(HERC2):c.3859C>G (p.Gln1287Glu)
NM_004667.6(HERC2):c.3911A>G (p.Asp1304Gly)
NM_004667.6(HERC2):c.3964A>G (p.Met1322Val)
NM_004667.6(HERC2):c.3986T>C (p.Val1329Ala) rs770780725
NM_004667.6(HERC2):c.4100C>T (p.Pro1367Leu)
NM_004667.6(HERC2):c.4111C>T (p.Pro1371Ser)
NM_004667.6(HERC2):c.4277T>C (p.Met1426Thr)
NM_004667.6(HERC2):c.4577A>G (p.Asn1526Ser)
NM_004667.6(HERC2):c.4611A>C (p.Leu1537Phe)
NM_004667.6(HERC2):c.4681A>G (p.Lys1561Glu)
NM_004667.6(HERC2):c.4686G>C (p.Lys1562Asn)
NM_004667.6(HERC2):c.4789A>C (p.Ile1597Leu)
NM_004667.6(HERC2):c.4841C>A (p.Thr1614Lys)
NM_004667.6(HERC2):c.4903C>G (p.Leu1635Val)
NM_004667.6(HERC2):c.5089C>G (p.Gln1697Glu)
NM_004667.6(HERC2):c.50A>C (p.Lys17Thr)
NM_004667.6(HERC2):c.5342C>T (p.Pro1781Leu)
NM_004667.6(HERC2):c.5367G>T (p.Met1789Ile)
NM_004667.6(HERC2):c.5371A>G (p.Ser1791Gly)
NM_004667.6(HERC2):c.547C>T (p.Arg183Trp)
NM_004667.6(HERC2):c.548G>A (p.Arg183Gln)
NM_004667.6(HERC2):c.548G>T (p.Arg183Leu)
NM_004667.6(HERC2):c.5558C>T (p.Pro1853Leu)
NM_004667.6(HERC2):c.562G>A (p.Gly188Ser)
NM_004667.6(HERC2):c.5683A>G (p.Ile1895Val)
NM_004667.6(HERC2):c.5710A>G (p.Ile1904Val)
NM_004667.6(HERC2):c.5797G>A (p.Ala1933Thr)
NM_004667.6(HERC2):c.5825C>T (p.Ser1942Leu)
NM_004667.6(HERC2):c.5879C>T (p.Thr1960Ile)
NM_004667.6(HERC2):c.596C>T (p.Ala199Val)
NM_004667.6(HERC2):c.5989C>G (p.Leu1997Val)
NM_004667.6(HERC2):c.6065G>A (p.Arg2022Gln)
NM_004667.6(HERC2):c.6116T>C (p.Val2039Ala)
NM_004667.6(HERC2):c.6119G>C (p.Cys2040Ser)
NM_004667.6(HERC2):c.6268G>T (p.Ala2090Ser)
NM_004667.6(HERC2):c.6377G>T (p.Arg2126Leu)
NM_004667.6(HERC2):c.6451C>T (p.Arg2151Cys)
NM_004667.6(HERC2):c.6514C>T (p.Arg2172Cys)
NM_004667.6(HERC2):c.6670A>G (p.Met2224Val)
NM_004667.6(HERC2):c.6672G>A (p.Met2224Ile)
NM_004667.6(HERC2):c.6681G>C (p.Glu2227Asp)
NM_004667.6(HERC2):c.6855G>C (p.Gln2285His)
NM_004667.6(HERC2):c.6866T>A (p.Leu2289His)
NM_004667.6(HERC2):c.6917C>G (p.Ala2306Gly)
NM_004667.6(HERC2):c.6992C>T (p.Ala2331Val)
NM_004667.6(HERC2):c.7013A>G (p.Lys2338Arg)
NM_004667.6(HERC2):c.7048G>C (p.Glu2350Gln)
NM_004667.6(HERC2):c.7100G>A (p.Gly2367Glu)
NM_004667.6(HERC2):c.7126C>A (p.Pro2376Thr)
NM_004667.6(HERC2):c.72+6G>C
NM_004667.6(HERC2):c.7366G>A (p.Val2456Ile)
NM_004667.6(HERC2):c.7372G>A (p.Ala2458Thr)
NM_004667.6(HERC2):c.7397T>C (p.Met2466Thr)
NM_004667.6(HERC2):c.7398G>A (p.Met2466Ile)
NM_004667.6(HERC2):c.7516T>A (p.Ser2506Thr)
NM_004667.6(HERC2):c.7568A>G (p.Tyr2523Cys)
NM_004667.6(HERC2):c.7633G>A (p.Val2545Met)
NM_004667.6(HERC2):c.7637C>T (p.Thr2546Met)
NM_004667.6(HERC2):c.7669T>A (p.Phe2557Ile)
NM_004667.6(HERC2):c.7721G>C (p.Gly2574Ala)
NM_004667.6(HERC2):c.7742G>A (p.Arg2581Gln)
NM_004667.6(HERC2):c.7771G>A (p.Val2591Ile)
NM_004667.6(HERC2):c.7834C>G (p.Gln2612Glu)
NM_004667.6(HERC2):c.7943A>C (p.Lys2648Thr)
NM_004667.6(HERC2):c.8002G>T (p.Val2668Phe)
NM_004667.6(HERC2):c.8035A>G (p.Ile2679Val)
NM_004667.6(HERC2):c.8036T>C (p.Ile2679Thr)
NM_004667.6(HERC2):c.8284C>T (p.Arg2762Cys)
NM_004667.6(HERC2):c.8361G>T (p.Lys2787Asn)
NM_004667.6(HERC2):c.8416G>A (p.Glu2806Lys)
NM_004667.6(HERC2):c.8506A>G (p.Ile2836Val)
NM_004667.6(HERC2):c.8582T>C (p.Ile2861Thr)
NM_004667.6(HERC2):c.860A>T (p.His287Leu)
NM_004667.6(HERC2):c.8793_8795del (p.Glu2934del)
NM_004667.6(HERC2):c.8842G>T (p.Ala2948Ser)
NM_004667.6(HERC2):c.8944G>C (p.Val2982Leu)
NM_004667.6(HERC2):c.9037G>A (p.Val3013Met)
NM_004667.6(HERC2):c.9113A>T (p.Gln3038Leu)
NM_004667.6(HERC2):c.926C>T (p.Ala309Val)
NM_004667.6(HERC2):c.9448G>A (p.Gly3150Ser)
NM_004667.6(HERC2):c.958G>A (p.Gly320Arg)
NM_004667.6(HERC2):c.961G>T (p.Ala321Ser)
NM_004667.6(HERC2):c.9623G>A (p.Cys3208Tyr) rs1895304464
NM_004667.6(HERC2):c.9682A>G (p.Thr3228Ala)
NM_004667.6(HERC2):c.992A>G (p.Gln331Arg)

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