ClinVar Miner

List of variants in gene GALK1 reported as likely benign for Deficiency of galactokinase

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.1108-40C>T rs743554 0.16712
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205 0.00200
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960 0.00113
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000154.2(GALK1):c.611+9C>T rs370204015 0.00064
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432 0.00058
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000154.2(GALK1):c.794-17T>G rs372098011 0.00035
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000154.2(GALK1):c.591C>T (p.His197=) rs142992759 0.00020
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000154.2(GALK1):c.876G>A (p.Ala292=) rs375015389 0.00013
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503 0.00009
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480 0.00009
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748 0.00006
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000154.2(GALK1):c.300G>A (p.Glu100=) rs776426036 0.00005
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665 0.00005
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836 0.00004
NM_000154.2(GALK1):c.765C>T (p.Leu255=) rs146095595 0.00004
NM_000154.2(GALK1):c.105G>C (p.Pro35=) rs373829335 0.00003
NM_000154.2(GALK1):c.1108-12C>T rs755467791 0.00003
NM_000154.2(GALK1):c.369T>C (p.Pro123=) rs1303520004 0.00003
NM_000154.2(GALK1):c.42C>T (p.Ala14=) rs905607688 0.00003
NM_000154.2(GALK1):c.531C>T (p.Phe177=) rs147739431 0.00003
NM_000154.2(GALK1):c.1032G>A (p.Thr344=) rs771995336 0.00002
NM_000154.2(GALK1):c.1035C>T (p.Gly345=) rs576223041 0.00002
NM_000154.2(GALK1):c.1089C>T (p.His363=) rs200502537 0.00002
NM_000154.2(GALK1):c.1107+9G>A rs763207227 0.00002
NM_000154.2(GALK1):c.1155T>C (p.Asp385=) rs747793390 0.00002
NM_000154.2(GALK1):c.171G>A (p.Leu57=) rs779604073 0.00002
NM_000154.2(GALK1):c.294G>T (p.Ser98=) rs766656571 0.00002
NM_000154.2(GALK1):c.771G>A (p.Glu257=) rs764099539 0.00002
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611 0.00002
NM_000154.2(GALK1):c.1005G>T (p.Val335=) rs1182006462 0.00001
NM_000154.2(GALK1):c.1101C>T (p.His367=) rs1436958552 0.00001
NM_000154.2(GALK1):c.1107+14A>G rs779926252 0.00001
NM_000154.2(GALK1):c.1107+7G>A rs768625071 0.00001
NM_000154.2(GALK1):c.1137C>T (p.Tyr379=) rs2061561144 0.00001
NM_000154.2(GALK1):c.153G>T (p.Leu51=) rs573790143 0.00001
NM_000154.2(GALK1):c.183G>A (p.Thr61=) rs1488762066 0.00001
NM_000154.2(GALK1):c.216G>A (p.Leu72=) rs752773767 0.00001
NM_000154.2(GALK1):c.273A>G (p.Pro91=) rs2061599258 0.00001
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855 0.00001
NM_000154.2(GALK1):c.30G>T (p.Ala10=) rs1174194549 0.00001
NM_000154.2(GALK1):c.321C>T (p.Ala107=) rs771880802 0.00001
NM_000154.2(GALK1):c.355+9C>A rs1437523931 0.00001
NM_000154.2(GALK1):c.356-10T>C rs1282630071 0.00001
NM_000154.2(GALK1):c.408G>A (p.Gly136=) rs138057626 0.00001
NM_000154.2(GALK1):c.417G>C (p.Leu139=) rs761316738 0.00001
NM_000154.2(GALK1):c.441G>A (p.Val147=) rs780587160 0.00001
NM_000154.2(GALK1):c.475+7G>C rs375660566 0.00001
NM_000154.2(GALK1):c.476-9G>A rs774490771 0.00001
NM_000154.2(GALK1):c.480G>A (p.Ser160=) rs756405600 0.00001
NM_000154.2(GALK1):c.498C>T (p.Arg166=) rs763880577 0.00001
NM_000154.2(GALK1):c.611+10G>A rs766858133 0.00001
NM_000154.2(GALK1):c.628C>T (p.Leu210=) rs1435062185 0.00001
NM_000154.2(GALK1):c.645C>T (p.Asp215=) rs201939520 0.00001
NM_000154.2(GALK1):c.654G>A (p.Leu218=) rs1487175886 0.00001
NM_000154.2(GALK1):c.699C>T (p.Ser233=) rs1402390213 0.00001
NM_000154.2(GALK1):c.744G>A (p.Arg248=) rs774107830 0.00001
NM_000154.2(GALK1):c.748C>T (p.Leu250=) rs904702679 0.00001
NM_000154.2(GALK1):c.759A>G (p.Glu253=) rs1177538590 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000154.2(GALK1):c.84C>G (p.Pro28=) rs757263223 0.00001
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506 0.00001
NM_000154.2(GALK1):c.909T>C (p.Phe303=) rs1337504590 0.00001
NM_000154.2(GALK1):c.915C>T (p.Arg305=) rs763728671 0.00001
NM_000154.2(GALK1):c.933C>T (p.His311=) rs759153077 0.00001
NM_000154.2(GALK1):c.93C>G (p.Ala31=) rs1165544582 0.00001
NM_000154.2(GALK1):c.966C>T (p.Cys322=) rs969862473 0.00001
NM_000154.2(GALK1):c.975G>A (p.Leu325=) rs1247403138 0.00001
NM_000154.2(GALK1):c.978C>T (p.Asp326=) rs765769433 0.00001
NM_000154.2(GALK1):c.982C>T (p.Leu328=) rs374440207 0.00001
NM_000154.2(GALK1):c.996G>A (p.Ala332=) rs1456156062 0.00001
NM_000154.2(GALK1):c.1011G>C (p.Gly337=) rs764915515
NM_000154.2(GALK1):c.1017T>C (p.Tyr339=)
NM_000154.2(GALK1):c.1026C>T (p.Arg342=)
NM_000154.2(GALK1):c.102G>A (p.Ala34=)
NM_000154.2(GALK1):c.1092C>G (p.Ala364=)
NM_000154.2(GALK1):c.1096C>A (p.Arg366=)
NM_000154.2(GALK1):c.10T>C (p.Leu4=) rs2143608703
NM_000154.2(GALK1):c.1107+12C>T
NM_000154.2(GALK1):c.1107+18C>T
NM_000154.2(GALK1):c.1108-11G>A
NM_000154.2(GALK1):c.1108-15G>A
NM_000154.2(GALK1):c.1108-17C>A
NM_000154.2(GALK1):c.1108-17C>T
NM_000154.2(GALK1):c.1108-18C>G
NM_000154.2(GALK1):c.1108-19C>T
NM_000154.2(GALK1):c.1108-20C>T rs755750574
NM_000154.2(GALK1):c.1113C>T (p.His371=)
NM_000154.2(GALK1):c.1122G>C (p.Gly374=)
NM_000154.2(GALK1):c.1131C>T (p.Thr377=) rs1359178236
NM_000154.2(GALK1):c.1140C>G (p.Leu380=)
NM_000154.2(GALK1):c.1140C>T (p.Leu380=) rs1244261337
NM_000154.2(GALK1):c.114C>T (p.Val38=)
NM_000154.2(GALK1):c.1161C>T (p.Ala387=)
NM_000154.2(GALK1):c.1168C>T (p.Leu390=)
NM_000154.2(GALK1):c.1176G>A (p.Leu392=)
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.123C>A (p.Ile41=)
NM_000154.2(GALK1):c.135G>A (p.Thr45=)
NM_000154.2(GALK1):c.138C>T (p.Asp46=)
NM_000154.2(GALK1):c.141C>T (p.Tyr47=)
NM_000154.2(GALK1):c.144C>T (p.Asn48=) rs746381829
NM_000154.2(GALK1):c.147G>A (p.Gln49=) rs1438305118
NM_000154.2(GALK1):c.150C>T (p.Gly50=) rs1599336859
NM_000154.2(GALK1):c.153G>A (p.Leu51=)
NM_000154.2(GALK1):c.157C>T (p.Leu53=) rs1325878350
NM_000154.2(GALK1):c.162T>G (p.Pro54=)
NM_000154.2(GALK1):c.165+11G>C
NM_000154.2(GALK1):c.165+13A>T
NM_000154.2(GALK1):c.165+14C>A
NM_000154.2(GALK1):c.165+15G>A
NM_000154.2(GALK1):c.165+20G>T
NM_000154.2(GALK1):c.166-10C>T rs768552200
NM_000154.2(GALK1):c.166-12C>G
NM_000154.2(GALK1):c.166-14G>A
NM_000154.2(GALK1):c.166-18_166-3dup rs2143605592
NM_000154.2(GALK1):c.166-5_166-4delinsAT rs2143605594
NM_000154.2(GALK1):c.166-6T>C
NM_000154.2(GALK1):c.166-6dup rs2143605607
NM_000154.2(GALK1):c.166-7C>A
NM_000154.2(GALK1):c.166-8C>A
NM_000154.2(GALK1):c.166-9T>C rs2143605624
NM_000154.2(GALK1):c.171G>C (p.Leu57=)
NM_000154.2(GALK1):c.177C>T (p.Leu59=)
NM_000154.2(GALK1):c.183G>C (p.Thr61=)
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.18G>A (p.Gln6=)
NM_000154.2(GALK1):c.195C>T (p.Gly65=) rs1301639431
NM_000154.2(GALK1):c.201C>T (p.Pro67=)
NM_000154.2(GALK1):c.204C>G (p.Arg68=)
NM_000154.2(GALK1):c.204C>T (p.Arg68=)
NM_000154.2(GALK1):c.207G>A (p.Lys69=)
NM_000154.2(GALK1):c.21C>A (p.Pro7=)
NM_000154.2(GALK1):c.231C>A (p.Thr77=) rs2143605334
NM_000154.2(GALK1):c.231C>T (p.Thr77=)
NM_000154.2(GALK1):c.234C>T (p.Thr78=)
NM_000154.2(GALK1):c.246C>G (p.Ala82=)
NM_000154.2(GALK1):c.246C>T (p.Ala82=) rs746991487
NM_000154.2(GALK1):c.255C>T (p.Pro85=) rs2143605234
NM_000154.2(GALK1):c.261G>A (p.Arg87=) rs2143605202
NM_000154.2(GALK1):c.264G>A (p.Leu88=)
NM_000154.2(GALK1):c.276G>A (p.Leu92=)
NM_000154.2(GALK1):c.279C>G (p.Pro93=) rs749735019
NM_000154.2(GALK1):c.294G>A (p.Ser98=)
NM_000154.2(GALK1):c.294G>C (p.Ser98=)
NM_000154.2(GALK1):c.295C>T (p.Leu99=)
NM_000154.2(GALK1):c.297G>A (p.Leu99=) rs1568395582
NM_000154.2(GALK1):c.30G>C (p.Ala10=) rs1174194549
NM_000154.2(GALK1):c.324C>T (p.Asn108=) rs2143604949
NM_000154.2(GALK1):c.336A>G (p.Gly112=) rs2061598790
NM_000154.2(GALK1):c.336A>T (p.Gly112=)
NM_000154.2(GALK1):c.339G>T (p.Val113=)
NM_000154.2(GALK1):c.33G>A (p.Glu11=) rs2143608612
NM_000154.2(GALK1):c.345G>A (p.Gln115=) rs748888762
NM_000154.2(GALK1):c.348C>T (p.Tyr116=)
NM_000154.2(GALK1):c.351C>T (p.Tyr117=) rs778282318
NM_000154.2(GALK1):c.355+10C>G
NM_000154.2(GALK1):c.355+11C>G
NM_000154.2(GALK1):c.355+14G>T
NM_000154.2(GALK1):c.355+7G>C
NM_000154.2(GALK1):c.355+8G>A
NM_000154.2(GALK1):c.355+8G>T
NM_000154.2(GALK1):c.356-11T>G
NM_000154.2(GALK1):c.356-19C>T rs781400629
NM_000154.2(GALK1):c.356-20A>G
NM_000154.2(GALK1):c.356-8C>A
NM_000154.2(GALK1):c.356-8C>T
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.372C>A (p.Gly124=) rs2061596661
NM_000154.2(GALK1):c.396A>C (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.399G>A (p.Val133=)
NM_000154.2(GALK1):c.39G>T (p.Leu13=) rs2143608593
NM_000154.2(GALK1):c.408G>C (p.Gly136=) rs138057626
NM_000154.2(GALK1):c.417G>A (p.Leu139=) rs761316738
NM_000154.2(GALK1):c.420C>T (p.Ser140=)
NM_000154.2(GALK1):c.432C>G (p.Ser144=) rs150323432
NM_000154.2(GALK1):c.438A>G (p.Glu146=) rs2143603645
NM_000154.2(GALK1):c.447G>C (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.450C>T (p.Tyr150=)
NM_000154.2(GALK1):c.459C>T (p.Leu153=) rs147800408
NM_000154.2(GALK1):c.465G>A (p.Gln155=)
NM_000154.2(GALK1):c.471T>C (p.Cys157=)
NM_000154.2(GALK1):c.475+14C>T
NM_000154.2(GALK1):c.475+19C>G
NM_000154.2(GALK1):c.476-10T>C
NM_000154.2(GALK1):c.476-17C>T
NM_000154.2(GALK1):c.476-17dup
NM_000154.2(GALK1):c.476-8_476-4del
NM_000154.2(GALK1):c.486A>G (p.Thr162=)
NM_000154.2(GALK1):c.486A>T (p.Thr162=)
NM_000154.2(GALK1):c.489A>T (p.Ile163=) rs2143603001
NM_000154.2(GALK1):c.495C>T (p.Ala165=) rs750290029
NM_000154.2(GALK1):c.501C>A (p.Ala167=)
NM_000154.2(GALK1):c.501C>T (p.Ala167=)
NM_000154.2(GALK1):c.507G>A (p.Val169=) rs760305997
NM_000154.2(GALK1):c.516G>A (p.Gln172=) rs1282302483
NM_000154.2(GALK1):c.519C>A (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.519C>G (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.519C>T (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.537G>A (p.Gly179=) rs2143602754
NM_000154.2(GALK1):c.543C>T (p.Pro181=)
NM_000154.2(GALK1):c.573T>A (p.Leu191=) rs2061594551
NM_000154.2(GALK1):c.573T>C (p.Leu191=) rs2061594551
NM_000154.2(GALK1):c.57C>T (p.Ala19=)
NM_000154.2(GALK1):c.585A>G (p.Lys195=) rs1321214794
NM_000154.2(GALK1):c.594G>A (p.Ala198=) rs755764957
NM_000154.2(GALK1):c.594G>C (p.Ala198=) rs755764957
NM_000154.2(GALK1):c.611+11C>A
NM_000154.2(GALK1):c.611+15C>A
NM_000154.2(GALK1):c.611+15C>T
NM_000154.2(GALK1):c.611+19G>A
NM_000154.2(GALK1):c.611+19G>T
NM_000154.2(GALK1):c.612-17T>C
NM_000154.2(GALK1):c.612-18A>G
NM_000154.2(GALK1):c.612-20C>G
NM_000154.2(GALK1):c.612-4C>G rs2061593526
NM_000154.2(GALK1):c.612-6C>T
NM_000154.2(GALK1):c.612-7A>C rs946374109
NM_000154.2(GALK1):c.612-8C>T rs2143602055
NM_000154.2(GALK1):c.639C>G (p.Leu213=)
NM_000154.2(GALK1):c.63G>C (p.Arg21=)
NM_000154.2(GALK1):c.657C>G (p.Ala219=)
NM_000154.2(GALK1):c.660G>A (p.Val220=) rs2143601804
NM_000154.2(GALK1):c.660G>C (p.Val220=) rs2143601804
NM_000154.2(GALK1):c.663C>T (p.Leu221=) rs2143601784
NM_000154.2(GALK1):c.681C>T (p.Val227=)
NM_000154.2(GALK1):c.691C>T (p.Leu231=)
NM_000154.2(GALK1):c.69G>A (p.Glu23=)
NM_000154.2(GALK1):c.708C>T (p.Tyr236=)
NM_000154.2(GALK1):c.714G>A (p.Val238=)
NM_000154.2(GALK1):c.715C>A (p.Arg239=)
NM_000154.2(GALK1):c.741C>T (p.Ala247=)
NM_000154.2(GALK1):c.756G>A (p.Lys252=)
NM_000154.2(GALK1):c.75G>A (p.Gly25=)
NM_000154.2(GALK1):c.780G>A (p.Leu260=) rs2143601311
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.78C>A (p.Ala26=) rs111772385
NM_000154.2(GALK1):c.793+13A>G
NM_000154.2(GALK1):c.793+15G>A
NM_000154.2(GALK1):c.793+19C>T
NM_000154.2(GALK1):c.794-12T>C
NM_000154.2(GALK1):c.794-14T>C
NM_000154.2(GALK1):c.794-4C>A
NM_000154.2(GALK1):c.794-6C>T rs2143588609
NM_000154.2(GALK1):c.799A>C (p.Arg267=) rs2143588547
NM_000154.2(GALK1):c.801G>A (p.Arg267=)
NM_000154.2(GALK1):c.807G>A (p.Leu269=)
NM_000154.2(GALK1):c.807G>C (p.Leu269=)
NM_000154.2(GALK1):c.819G>A (p.Glu273=)
NM_000154.2(GALK1):c.81G>A (p.Glu27=) rs2061605081
NM_000154.2(GALK1):c.822C>T (p.Gly274=) rs2143588442
NM_000154.2(GALK1):c.829C>A (p.Arg277=) rs550012222
NM_000154.2(GALK1):c.834C>T (p.Ala278=)
NM_000154.2(GALK1):c.837G>A (p.Arg279=) rs1471733833
NM_000154.2(GALK1):c.843G>C (p.Val281=) rs1490873505
NM_000154.2(GALK1):c.843G>T (p.Val281=)
NM_000154.2(GALK1):c.846G>A (p.Val282=) rs1289458233
NM_000154.2(GALK1):c.849G>A (p.Gly283=)
NM_000154.2(GALK1):c.84C>T (p.Pro28=)
NM_000154.2(GALK1):c.864G>A (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.864G>T (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.867C>A (p.Ala289=)
NM_000154.2(GALK1):c.879C>T (p.Ala293=)
NM_000154.2(GALK1):c.882C>T (p.Ala294=)
NM_000154.2(GALK1):c.88C>T (p.Leu30=)
NM_000154.2(GALK1):c.900C>T (p.Tyr300=) rs2143587826
NM_000154.2(GALK1):c.903A>G (p.Arg301=)
NM_000154.2(GALK1):c.90G>C (p.Leu30=)
NM_000154.2(GALK1):c.912C>T (p.Gly304=)
NM_000154.2(GALK1):c.918C>T (p.Leu306=)
NM_000154.2(GALK1):c.930C>T (p.Ser310=) rs767539734
NM_000154.2(GALK1):c.939A>T (p.Ser313=) rs2143587541
NM_000154.2(GALK1):c.93C>T (p.Ala31=) rs1165544582
NM_000154.2(GALK1):c.942C>T (p.Leu314=) rs2143587515
NM_000154.2(GALK1):c.944+16C>T
NM_000154.2(GALK1):c.944+17G>A
NM_000154.2(GALK1):c.944+20C>G
NM_000154.2(GALK1):c.945-14T>C
NM_000154.2(GALK1):c.945-20C>A
NM_000154.2(GALK1):c.945-4G>A rs2143586908
NM_000154.2(GALK1):c.975G>T (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.990G>A (p.Glu330=) rs2143586648

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