ClinVar Miner

List of variants in gene HK3

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_002115.3(HK3):c.841G>A (p.Gly281Arg) rs35610191 0.02444
NM_002115.3(HK3):c.2187C>T (p.Thr729=) rs35676647 0.02436
NM_002115.3(HK3):c.218G>A (p.Arg73Gln) rs61739890 0.01104
NM_002115.3(HK3):c.708G>A (p.Pro236=) rs112160979 0.00541
NM_002115.3(HK3):c.2198C>G (p.Ala733Gly) rs78805667 0.00381
NM_002115.3(HK3):c.2165G>A (p.Gly722Asp) rs139364608 0.00060
NM_002115.3(HK3):c.1902C>T (p.Cys634=) rs114856191 0.00058
NM_002115.3(HK3):c.366C>A (p.Ser122Arg) rs147960651 0.00040
NM_002115.3(HK3):c.302C>T (p.Ala101Val) rs199663371 0.00032
NM_002115.3(HK3):c.1782G>C (p.Lys594Asn) rs200906801 0.00025
NM_002115.3(HK3):c.2710G>A (p.Gly904Ser) rs146153216 0.00024
NM_002115.3(HK3):c.2765G>A (p.Arg922His) rs150401292 0.00019
NM_002115.3(HK3):c.1492G>A (p.Ala498Thr) rs142608480 0.00018
NM_002115.3(HK3):c.1414G>A (p.Val472Met) rs184900635 0.00017
NM_002115.3(HK3):c.1619C>T (p.Ala540Val) rs143577771 0.00015
NM_002115.3(HK3):c.2263T>A (p.Tyr755Asn) rs766958235 0.00013
NM_002115.3(HK3):c.2349G>T (p.Gln783His) rs61755710 0.00012
NM_002115.3(HK3):c.347A>G (p.His116Arg) rs369230456 0.00009
NM_002115.3(HK3):c.793C>T (p.Arg265Trp) rs141772552 0.00009
NM_002115.3(HK3):c.524G>A (p.Gly175Asp) rs146251872 0.00008
NM_002115.3(HK3):c.2323C>T (p.Arg775Trp) rs145588665 0.00007
NM_002115.3(HK3):c.2227G>A (p.Gly743Ser) rs369520286 0.00006
NM_002115.3(HK3):c.2518T>C (p.Cys840Arg) rs373687842 0.00006
NM_002115.3(HK3):c.1795G>A (p.Gly599Arg) rs140696619 0.00005
NM_002115.3(HK3):c.1975G>A (p.Ala659Thr) rs138002696 0.00005
NM_002115.3(HK3):c.2189G>A (p.Arg730His) rs745623940 0.00005
NM_002115.3(HK3):c.2554C>T (p.Arg852Trp) rs755391790 0.00005
NM_002115.3(HK3):c.114G>T (p.Gln38His) rs760597997 0.00004
NM_002115.3(HK3):c.2089C>T (p.Arg697Trp) rs147409752 0.00004
NM_002115.3(HK3):c.2432A>G (p.Glu811Gly) rs778604405 0.00004
NM_002115.3(HK3):c.695C>T (p.Pro232Leu) rs200190227 0.00004
NM_002115.3(HK3):c.983G>A (p.Arg328Gln) rs139187398 0.00004
NM_002115.3(HK3):c.1166C>T (p.Ala389Val) rs767209073 0.00003
NM_002115.3(HK3):c.1465C>T (p.Pro489Ser) rs775508008 0.00003
NM_002115.3(HK3):c.1814G>A (p.Gly605Asp) rs368066219 0.00003
NM_002115.3(HK3):c.2035G>A (p.Glu679Lys) rs757892659 0.00003
NM_002115.3(HK3):c.2110G>A (p.Gly704Arg) rs372156267 0.00003
NM_002115.3(HK3):c.2138T>G (p.Met713Arg) rs758880985 0.00003
NM_002115.3(HK3):c.2342G>A (p.Arg781His) rs566539907 0.00003
NM_002115.3(HK3):c.2734G>A (p.Ala912Thr) rs1413800944 0.00003
NM_002115.3(HK3):c.1091G>A (p.Arg364His) rs956253223 0.00002
NM_002115.3(HK3):c.322G>A (p.Val108Met) rs1418386309 0.00002
NM_002115.3(HK3):c.869T>G (p.Phe290Cys) rs745368895 0.00002
NM_002115.3(HK3):c.1015C>A (p.Pro339Thr) rs1309133983 0.00001
NM_002115.3(HK3):c.1028G>A (p.Ser343Asn) rs369428434 0.00001
NM_002115.3(HK3):c.1099G>A (p.Ala367Thr) rs374550151 0.00001
NM_002115.3(HK3):c.1195T>C (p.Cys399Arg) rs755294955 0.00001
NM_002115.3(HK3):c.1283G>A (p.Arg428Gln) rs111627568 0.00001
NM_002115.3(HK3):c.1295G>A (p.Arg432Gln) rs1458621297 0.00001
NM_002115.3(HK3):c.1555C>T (p.Leu519Phe) rs554872384 0.00001
NM_002115.3(HK3):c.1671A>T (p.Thr557=) rs200480878 0.00001
NM_002115.3(HK3):c.1726T>C (p.Ser576Pro) rs372392371 0.00001
NM_002115.3(HK3):c.1826C>T (p.Ser609Phe) rs779857825 0.00001
NM_002115.3(HK3):c.2027C>T (p.Pro676Leu) rs779271345 0.00001
NM_002115.3(HK3):c.206C>A (p.Ala69Asp) rs1388211903 0.00001
NM_002115.3(HK3):c.2622C>G (p.His874Gln) rs200923960 0.00001
NM_002115.3(HK3):c.301G>A (p.Ala101Thr) rs1251348540 0.00001
NM_002115.3(HK3):c.317T>C (p.Leu106Ser) rs996496649 0.00001
NM_002115.3(HK3):c.34G>C (p.Gly12Arg) rs1026763733 0.00001
NM_002115.3(HK3):c.359C>A (p.Pro120His) rs766901550 0.00001
NM_002115.3(HK3):c.101A>T (p.Gln34Leu)
NM_002115.3(HK3):c.1204G>A (p.Ala402Thr)
NM_002115.3(HK3):c.1261G>A (p.Val421Ile)
NM_002115.3(HK3):c.1307T>C (p.Phe436Ser)
NM_002115.3(HK3):c.1400C>A (p.Ala467Glu) rs367626464
NM_002115.3(HK3):c.1418C>T (p.Ala473Val)
NM_002115.3(HK3):c.1423C>A (p.Arg475Ser)
NM_002115.3(HK3):c.1438C>T (p.Arg480Trp) rs376532514
NM_002115.3(HK3):c.1472G>A (p.Arg491Gln) rs759109859
NM_002115.3(HK3):c.1512G>T (p.Met504Ile)
NM_002115.3(HK3):c.1513C>T (p.Arg505Trp)
NM_002115.3(HK3):c.1514G>A (p.Arg505Gln) rs144629628
NM_002115.3(HK3):c.1514G>T (p.Arg505Leu) rs144629628
NM_002115.3(HK3):c.159C>A (p.Ser53Arg)
NM_002115.3(HK3):c.1601-8C>T rs1204803991
NM_002115.3(HK3):c.1624G>A (p.Asp542Asn) rs1228762242
NM_002115.3(HK3):c.1630G>A (p.Gly544Arg)
NM_002115.3(HK3):c.1637C>T (p.Thr546Met)
NM_002115.3(HK3):c.1706C>T (p.Pro569Leu) rs1412289970
NM_002115.3(HK3):c.1708G>A (p.Glu570Lys) rs778816240
NM_002115.3(HK3):c.1802G>A (p.Ser601Asn)
NM_002115.3(HK3):c.1864C>T (p.Leu622Phe)
NM_002115.3(HK3):c.1901G>A (p.Cys634Tyr)
NM_002115.3(HK3):c.1922G>C (p.Ser641Thr) rs778250236
NM_002115.3(HK3):c.1996G>A (p.Gly666Arg)
NM_002115.3(HK3):c.202C>A (p.Pro68Thr)
NM_002115.3(HK3):c.2079G>C (p.Met693Ile) rs1469863578
NM_002115.3(HK3):c.2086C>T (p.Leu696Phe) rs2532552494
NM_002115.3(HK3):c.2090G>A (p.Arg697Gln) rs145014783
NM_002115.3(HK3):c.2098G>C (p.Ala700Pro) rs375907484
NM_002115.3(HK3):c.2104G>A (p.Val702Met)
NM_002115.3(HK3):c.2111G>A (p.Gly704Glu) rs777101167
NM_002115.3(HK3):c.2113G>C (p.Asp705His) rs2532552300
NM_002115.3(HK3):c.2140G>C (p.Glu714Gln)
NM_002115.3(HK3):c.2160C>A (p.Asp720Glu) rs371103424
NM_002115.3(HK3):c.2161G>A (p.Asp721Asn)
NM_002115.3(HK3):c.220A>C (p.Met74Leu) rs1171817495
NM_002115.3(HK3):c.2276T>G (p.Ile759Ser)
NM_002115.3(HK3):c.2314G>A (p.Val772Ile) rs569541765
NM_002115.3(HK3):c.2350A>G (p.Thr784Ala) rs2532551248
NM_002115.3(HK3):c.235G>T (p.Val79Leu) rs758616907
NM_002115.3(HK3):c.2399G>A (p.Ser800Asn)
NM_002115.3(HK3):c.2542G>A (p.Val848Met)
NM_002115.3(HK3):c.2555G>A (p.Arg852Gln) rs1380149933
NM_002115.3(HK3):c.2593G>C (p.Gly865Arg)
NM_002115.3(HK3):c.2596G>A (p.Val866Met) rs1322592654
NM_002115.3(HK3):c.2601T>A (p.Asp867Glu)
NM_002115.3(HK3):c.2626C>T (p.Arg876Cys)
NM_002115.3(HK3):c.2628C>T (p.Arg876=)
NM_002115.3(HK3):c.2690T>G (p.Leu897Arg)
NM_002115.3(HK3):c.2698G>A (p.Glu900Lys)
NM_002115.3(HK3):c.277G>A (p.Val93Met)
NM_002115.3(HK3):c.28C>T (p.Arg10Trp)
NM_002115.3(HK3):c.310C>T (p.Arg104Cys) rs141892147
NM_002115.3(HK3):c.357G>C (p.Glu119Asp)
NM_002115.3(HK3):c.447G>C (p.Glu149Asp) rs747370923
NM_002115.3(HK3):c.479G>T (p.Gly160Val)
NM_002115.3(HK3):c.487C>A (p.Leu163Ile) rs1758747777
NM_002115.3(HK3):c.532A>T (p.Arg178Trp)
NM_002115.3(HK3):c.534G>A (p.Arg178=) rs2532573408
NM_002115.3(HK3):c.553A>T (p.Thr185Ser) rs1561683757
NM_002115.3(HK3):c.592G>A (p.Val198Met) rs2532573058
NM_002115.3(HK3):c.600G>T (p.Gln200His) rs2532573043
NM_002115.3(HK3):c.614C>T (p.Ala205Val) rs2532573001
NM_002115.3(HK3):c.632C>G (p.Ala211Gly)
NM_002115.3(HK3):c.734C>T (p.Thr245Met)
NM_002115.3(HK3):c.766C>T (p.Arg256Trp)
NM_002115.3(HK3):c.799C>T (p.Arg267Cys)
NM_002115.3(HK3):c.814G>A (p.Val272Ile) rs541590139
NM_002115.3(HK3):c.819G>T (p.Glu273Asp) rs2532570258
NM_002115.3(HK3):c.839A>C (p.Asp280Ala) rs2532570197
NM_002115.3(HK3):c.846G>A (p.Ala282=)
NM_002115.3(HK3):c.850G>A (p.Gly284Arg)
NM_002115.3(HK3):c.871G>T (p.Asp291Tyr) rs61740251
NM_002115.3(HK3):c.919G>A (p.Glu307Lys)
NM_002115.3(HK3):c.95T>C (p.Leu32Pro)
NM_002115.3(HK3):c.982C>T (p.Arg328Trp)

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