ClinVar Miner

List of variants in gene HERC1 reported as benign by Invitae

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Gene type:
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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.12879A>T (p.Ile4293=) rs10851731 0.83149
NM_003922.4(HERC1):c.9223+19T>C rs2272209 0.83099
NM_003922.4(HERC1):c.9093G>A (p.Pro3031=) rs2228511 0.83085
NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala) rs2255243 0.83065
NM_003922.4(HERC1):c.5675-7A>G rs11630720 0.52041
NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val) rs2228510 0.48869
NM_003922.4(HERC1):c.11739C>G (p.Leu3913=) rs2228517 0.44575
NM_003922.4(HERC1):c.11433+7T>C rs10519223 0.44503
NM_003922.4(HERC1):c.3743-8A>G rs7176133 0.27240
NM_003922.4(HERC1):c.8555+13T>C rs10152174 0.16993
NM_003922.4(HERC1):c.10747+17dup rs138962471 0.14436
NM_003922.4(HERC1):c.13152C>G (p.Pro4384=) rs1140422 0.13231
NM_003922.4(HERC1):c.2521-17T>C rs77339802 0.03321
NM_003922.4(HERC1):c.687T>A (p.Leu229=) rs35471228 0.03309
NM_003922.4(HERC1):c.9455C>T (p.Ser3152Phe) rs2228513 0.03202
NM_003922.4(HERC1):c.786A>G (p.Arg262=) rs2228515 0.03165
NM_003922.4(HERC1):c.11433+9G>A rs75467798 0.02860
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.13923C>T (p.Thr4641=) rs76465062 0.02124
NM_003922.4(HERC1):c.13875C>T (p.Tyr4625=) rs75055604 0.02032
NM_003922.4(HERC1):c.3113A>C (p.Lys1038Thr) rs61740450 0.01912
NM_003922.4(HERC1):c.10723T>C (p.Leu3575=) rs61738787 0.01401
NM_003922.4(HERC1):c.8469G>A (p.Gly2823=) rs35918222 0.01335
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.5839C>T (p.Leu1947=) rs35098067 0.01229
NM_003922.4(HERC1):c.5932G>T (p.Ala1978Ser) rs34484871 0.01169
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.11332-15T>C rs78341289 0.01147
NM_003922.4(HERC1):c.7815G>A (p.Leu2605=) rs145406028 0.01144
NM_003922.4(HERC1):c.13180A>G (p.Ile4394Val) rs2228516 0.01040
NM_003922.4(HERC1):c.12093+11G>T rs145974555 0.01035
NM_003922.4(HERC1):c.14559C>T (p.Asn4853=) rs2228518 0.00990
NM_003922.4(HERC1):c.14401-20C>T rs147469276 0.00922
NM_003922.4(HERC1):c.570C>T (p.Asn190=) rs2228514 0.00777
NM_003922.4(HERC1):c.2520+18G>A rs79559105 0.00711
NM_003922.4(HERC1):c.2521-20C>T rs78084910 0.00704
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.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.8446G>A (p.Ala2816Thr) rs35122568 0.00507
NM_003922.4(HERC1):c.4232G>T (p.Gly1411Val) rs36089909 0.00505
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.837C>T (p.His279=) rs116967176 0.00427
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.6000C>T (p.Ala2000=) rs186236651 0.00265
NM_003922.4(HERC1):c.5613C>T (p.Asp1871=) rs114159254 0.00228
NM_003922.4(HERC1):c.10084+9C>T rs185469753 0.00223
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.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.11078+20C>A rs80024345 0.00149
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.8680+15C>T rs116455805 0.00123
NM_003922.4(HERC1):c.6864C>T (p.Leu2288=) rs114554616 0.00096
NM_003922.4(HERC1):c.10879-20T>C rs148130477 0.00091
NM_003922.4(HERC1):c.6420G>A (p.Val2140=) rs373459995 0.00086
NM_003922.4(HERC1):c.10291-9C>A rs374631238 0.00052
NM_003922.4(HERC1):c.8444G>A (p.Gly2815Glu) rs149457868 0.00043
NM_003922.4(HERC1):c.9501T>G (p.Pro3167=) rs144537688 0.00039
NM_003922.4(HERC1):c.11967+17A>G rs139840287 0.00018
NM_003922.4(HERC1):c.228C>G (p.Asp76Glu) rs376195217 0.00016
NM_003922.4(HERC1):c.12391T>C (p.Leu4131=) rs762783747 0.00011
NM_003922.4(HERC1):c.10137G>T (p.Leu3379=) rs375917148 0.00006
NM_003922.4(HERC1):c.13612-6C>G rs370925074 0.00006
NM_003922.4(HERC1):c.2421G>C (p.Ala807=) rs544757328 0.00004
NM_003922.4(HERC1):c.14406C>T (p.Tyr4802=) rs576248226 0.00001
NM_003922.4(HERC1):c.1026+4C>G rs150326607
NM_003922.4(HERC1):c.10879-20dup rs553790798
NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp) rs2229749
NM_003922.4(HERC1):c.11185-14dup
NM_003922.4(HERC1):c.111G>A (p.Leu37=)
NM_003922.4(HERC1):c.11902-11_11902-10del
NM_003922.4(HERC1):c.11902-18G>A
NM_003922.4(HERC1):c.12797-4dup
NM_003922.4(HERC1):c.3021+14dup rs531141038
NM_003922.4(HERC1):c.3022-9del rs747199351
NM_003922.4(HERC1):c.3569-3dup
NM_003922.4(HERC1):c.4464-15G>T rs116375944
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.4585-12del
NM_003922.4(HERC1):c.4692T>C (p.His1564=)
NM_003922.4(HERC1):c.5983A>G (p.Thr1995Ala) rs2228512
NM_003922.4(HERC1):c.621A>G (p.Ser207=)
NM_003922.4(HERC1):c.7079C>A (p.Thr2360Asn)
NM_003922.4(HERC1):c.7847-10dup rs753266212
NM_003922.4(HERC1):c.9216G>A (p.Val3072=)
NM_003922.4(HERC1):c.9224-9A>G
NM_003922.4(HERC1):c.9600-20A>T rs199828316

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