ClinVar Miner

List of variants in gene GALNS reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 338
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000512.5(GALNS):c.1551G>A (p.Lys517=) rs148182125 0.00053
NM_000512.5(GALNS):c.252G>A (p.Ala84=) rs377250967 0.00038
NM_000512.5(GALNS):c.1364+8G>A rs368171136 0.00034
NM_000512.5(GALNS):c.634-13G>A rs372009899 0.00034
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.412G>A (p.Val138Ile) rs140018158 0.00029
NM_000512.5(GALNS):c.1002+18G>A rs376019383 0.00024
NM_000512.5(GALNS):c.756G>A (p.Gly252=) rs146538873 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.1242+16C>T rs373098107 0.00020
NM_000512.5(GALNS):c.633+12C>T rs199726408 0.00015
NM_000512.5(GALNS):c.699C>T (p.Asp233=) rs374694424 0.00015
NM_000512.5(GALNS):c.899-6T>C rs374850312 0.00014
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn) rs146471218 0.00011
NM_000512.5(GALNS):c.1161C>T (p.Gly387=) rs376919708 0.00011
NM_000512.5(GALNS):c.138C>T (p.Leu46=) rs140588640 0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000512.5(GALNS):c.1003-19T>C rs368105385 0.00008
NM_000512.5(GALNS):c.969C>T (p.Leu323=) rs373218044 0.00008
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.360G>A (p.Ser120=) rs368060807 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.909C>T (p.Asn303=) rs751446283 0.00006
NM_000512.5(GALNS):c.833C>T (p.Ala278Val) rs141544939 0.00005
NM_000512.5(GALNS):c.1002+10C>T rs746669295 0.00004
NM_000512.5(GALNS):c.1139+20C>T rs762116692 0.00004
NM_000512.5(GALNS):c.121-18C>T rs200396173 0.00004
NM_000512.5(GALNS):c.168C>G (p.Thr56=) rs368128023 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.828C>T (p.His276=) rs759216815 0.00004
NM_000512.5(GALNS):c.899-19A>G rs759805854 0.00004
NM_000512.5(GALNS):c.1139+19C>T rs777834560 0.00003
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp) rs557217245 0.00003
NM_000512.5(GALNS):c.330G>A (p.Pro110=) rs374355420 0.00003
NM_000512.5(GALNS):c.822C>T (p.Asp274=) rs764817769 0.00003
NM_000512.5(GALNS):c.885C>T (p.Ser295=) rs766121335 0.00003
NM_000512.5(GALNS):c.1005G>C (p.Val335=) rs772871566 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1242+17G>A rs1159726808 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000512.5(GALNS):c.327A>C (p.Thr109=) rs759916392 0.00002
NM_000512.5(GALNS):c.453C>A (p.Pro151=) rs752021223 0.00002
NM_000512.5(GALNS):c.522C>G (p.Ala174=) rs891821999 0.00002
NM_000512.5(GALNS):c.628C>T (p.Leu210=) rs780787351 0.00002
NM_000512.5(GALNS):c.663A>T (p.Ala221=) rs749077864 0.00002
NM_000512.5(GALNS):c.1002+11G>A rs777624961 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1125C>T (p.Gly375=) rs773846201 0.00001
NM_000512.5(GALNS):c.1176G>A (p.Ala392=) rs398123431 0.00001
NM_000512.5(GALNS):c.1182C>A (p.Thr394=) rs1414082372 0.00001
NM_000512.5(GALNS):c.1230G>A (p.Glu410=) rs567507214 0.00001
NM_000512.5(GALNS):c.243A>G (p.Pro81=) rs759476855 0.00001
NM_000512.5(GALNS):c.244+20G>A rs373227121 0.00001
NM_000512.5(GALNS):c.320-13G>A rs113186480 0.00001
NM_000512.5(GALNS):c.399C>T (p.Tyr133=) rs761206910 0.00001
NM_000512.5(GALNS):c.422+17C>T rs748212930 0.00001
NM_000512.5(GALNS):c.441C>T (p.Pro147=) rs756456652 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000512.5(GALNS):c.899-13C>T rs938443899 0.00001
NM_000512.5(GALNS):c.987C>T (p.His329=) rs750730964 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000512.5(GALNS):c.1002+16C>G
NM_000512.5(GALNS):c.1002+16C>T
NM_000512.5(GALNS):c.1002+19G>C
NM_000512.5(GALNS):c.1002+19G>T
NM_000512.5(GALNS):c.1002+7C>G
NM_000512.5(GALNS):c.1002+8A>G
NM_000512.5(GALNS):c.1003-16C>T
NM_000512.5(GALNS):c.1011C>T (p.His337=)
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
NM_000512.5(GALNS):c.1050G>C (p.Leu350=)
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
NM_000512.5(GALNS):c.1071G>T (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
NM_000512.5(GALNS):c.1083G>A (p.Arg361=) rs2142995796
NM_000512.5(GALNS):c.1086C>T (p.Ala362=) rs2142995793
NM_000512.5(GALNS):c.1095C>T (p.Gly365=)
NM_000512.5(GALNS):c.1101C>T (p.Asn367=)
NM_000512.5(GALNS):c.1104C>A (p.Leu368=)
NM_000512.5(GALNS):c.1104C>T (p.Leu368=) rs1322856128
NM_000512.5(GALNS):c.1110C>T (p.Pro370=)
NM_000512.5(GALNS):c.1113C>G (p.Thr371=)
NM_000512.5(GALNS):c.1113C>T (p.Thr371=) rs375098009
NM_000512.5(GALNS):c.1119G>C (p.Leu373=)
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
NM_000512.5(GALNS):c.1139+14C>T
NM_000512.5(GALNS):c.1139+18C>A
NM_000512.5(GALNS):c.1140-10C>G
NM_000512.5(GALNS):c.1140-14C>T
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1140-20C>T
NM_000512.5(GALNS):c.1140-5C>T rs1181279151
NM_000512.5(GALNS):c.1146C>T (p.Ile382=)
NM_000512.5(GALNS):c.1164C>T (p.Asp388=)
NM_000512.5(GALNS):c.1167G>A (p.Thr389=)
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser) rs2142993851
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
NM_000512.5(GALNS):c.121-10T>C
NM_000512.5(GALNS):c.121-12T>C
NM_000512.5(GALNS):c.121-16G>A
NM_000512.5(GALNS):c.121-16G>C
NM_000512.5(GALNS):c.121-16G>T rs113230137
NM_000512.5(GALNS):c.121-18C>A
NM_000512.5(GALNS):c.121-18C>G
NM_000512.5(GALNS):c.121-19C>T
NM_000512.5(GALNS):c.121-20C>T
NM_000512.5(GALNS):c.121-5T>C
NM_000512.5(GALNS):c.121-6C>T
NM_000512.5(GALNS):c.1242+10T>C
NM_000512.5(GALNS):c.1242+11C>T
NM_000512.5(GALNS):c.1242+12G>A
NM_000512.5(GALNS):c.1242+12G>C
NM_000512.5(GALNS):c.1242+13G>C
NM_000512.5(GALNS):c.1242+17G>T
NM_000512.5(GALNS):c.1242+18T>G
NM_000512.5(GALNS):c.1242+19G>T
NM_000512.5(GALNS):c.1242+20G>C
NM_000512.5(GALNS):c.1242+7G>C
NM_000512.5(GALNS):c.1242+8G>A
NM_000512.5(GALNS):c.1243-10C>T
NM_000512.5(GALNS):c.1243-17C>A
NM_000512.5(GALNS):c.1243-17C>T
NM_000512.5(GALNS):c.1243-4G>T
NM_000512.5(GALNS):c.1263G>A (p.Gly421=)
NM_000512.5(GALNS):c.1278G>A (p.Gly426=)
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)
NM_000512.5(GALNS):c.1314G>A (p.Leu438=)
NM_000512.5(GALNS):c.1314G>C (p.Leu438=)
NM_000512.5(GALNS):c.1317C>T (p.Pro439=)
NM_000512.5(GALNS):c.1329C>T (p.His443=) rs1411737981
NM_000512.5(GALNS):c.1335A>G (p.Gly445=) rs2142992319
NM_000512.5(GALNS):c.1347G>A (p.Gly449=) rs759760397
NM_000512.5(GALNS):c.1356C>T (p.Phe452=) rs2142992304
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
NM_000512.5(GALNS):c.1364+11G>A
NM_000512.5(GALNS):c.1364+14G>C rs1400572799
NM_000512.5(GALNS):c.1364+15G>C
NM_000512.5(GALNS):c.1364+17C>T
NM_000512.5(GALNS):c.1364+7C>T
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
NM_000512.5(GALNS):c.144G>A (p.Val48=)
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
NM_000512.5(GALNS):c.1483-12T>C
NM_000512.5(GALNS):c.1483-13T>G
NM_000512.5(GALNS):c.1483-17C>T
NM_000512.5(GALNS):c.1483-19C>T
NM_000512.5(GALNS):c.1483-9A>G
NM_000512.5(GALNS):c.1497G>A (p.Pro499=)
NM_000512.5(GALNS):c.1509G>A (p.Lys503=)
NM_000512.5(GALNS):c.1510T>C (p.Leu504=)
NM_000512.5(GALNS):c.1522C>T (p.Leu508=)
NM_000512.5(GALNS):c.1527A>G (p.Thr509=)
NM_000512.5(GALNS):c.1536A>G (p.Glu512=)
NM_000512.5(GALNS):c.1557C>G (p.Leu519=)
NM_000512.5(GALNS):c.1563C>A (p.Ser521=)
NM_000512.5(GALNS):c.1563C>T (p.Ser521=)
NM_000512.5(GALNS):c.1566C>T (p.His522=)
NM_000512.5(GALNS):c.156C>G (p.Pro52=)
NM_000512.5(GALNS):c.159C>T (p.Ser53=)
NM_000512.5(GALNS):c.168C>A (p.Thr56=)
NM_000512.5(GALNS):c.171G>A (p.Pro57=)
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
NM_000512.5(GALNS):c.234G>A (p.Leu78=)
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
NM_000512.5(GALNS):c.244+10C>T
NM_000512.5(GALNS):c.244+11G>A
NM_000512.5(GALNS):c.244+14G>T
NM_000512.5(GALNS):c.244+17C>T
NM_000512.5(GALNS):c.244+8A>G
NM_000512.5(GALNS):c.244+9G>C
NM_000512.5(GALNS):c.245-10C>G
NM_000512.5(GALNS):c.245-13C>T
NM_000512.5(GALNS):c.245-15G>A
NM_000512.5(GALNS):c.245-15G>C
NM_000512.5(GALNS):c.245-17C>T
NM_000512.5(GALNS):c.245-25TTCTGT[3]
NM_000512.5(GALNS):c.245-4A>G
NM_000512.5(GALNS):c.245-5C>T
NM_000512.5(GALNS):c.245-7C>T
NM_000512.5(GALNS):c.246G>A (p.Ser82=)
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
NM_000512.5(GALNS):c.288C>G (p.Gly96=)
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
NM_000512.5(GALNS):c.309T>C (p.His103=)
NM_000512.5(GALNS):c.312C>G (p.Ala104=) rs1293637427
NM_000512.5(GALNS):c.319+10_319+11dup
NM_000512.5(GALNS):c.319+14C>T
NM_000512.5(GALNS):c.319+15G>A
NM_000512.5(GALNS):c.319+15G>T rs777179922
NM_000512.5(GALNS):c.319+16C>T
NM_000512.5(GALNS):c.320-14C>T
NM_000512.5(GALNS):c.320-18C>T
NM_000512.5(GALNS):c.320-7C>T
NM_000512.5(GALNS):c.320-9C>T
NM_000512.5(GALNS):c.330G>T (p.Pro110=)
NM_000512.5(GALNS):c.339T>C (p.Ile113=)
NM_000512.5(GALNS):c.345C>T (p.Gly115=)
NM_000512.5(GALNS):c.348C>T (p.Gly116=)
NM_000512.5(GALNS):c.363G>A (p.Glu121=)
NM_000512.5(GALNS):c.370C>T (p.Leu124=)
NM_000512.5(GALNS):c.375G>A (p.Pro125=)
NM_000512.5(GALNS):c.378G>A (p.Glu126=)
NM_000512.5(GALNS):c.384G>A (p.Leu128=)
NM_000512.5(GALNS):c.387G>A (p.Lys129=)
NM_000512.5(GALNS):c.411T>C (p.Ile137=)
NM_000512.5(GALNS):c.414C>G (p.Val138=)
NM_000512.5(GALNS):c.414C>T (p.Val138=)
NM_000512.5(GALNS):c.417C>G (p.Gly139=)
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
NM_000512.5(GALNS):c.422+10C>T
NM_000512.5(GALNS):c.422+14C>T
NM_000512.5(GALNS):c.422+18G>A
NM_000512.5(GALNS):c.422+19C>G
NM_000512.5(GALNS):c.422+20C>T
NM_000512.5(GALNS):c.422+9C>G
NM_000512.5(GALNS):c.423-14G>A
NM_000512.5(GALNS):c.423-15G>C
NM_000512.5(GALNS):c.423-20T>C
NM_000512.5(GALNS):c.423-4C>T
NM_000512.5(GALNS):c.423-5del
NM_000512.5(GALNS):c.423-8G>A
NM_000512.5(GALNS):c.423-8G>C rs111613055
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
NM_000512.5(GALNS):c.450C>T (p.His150=)
NM_000512.5(GALNS):c.462C>T (p.His154=)
NM_000512.5(GALNS):c.465A>G (p.Gly155=)
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
NM_000512.5(GALNS):c.540G>A (p.Val180=)
NM_000512.5(GALNS):c.544A>C (p.Arg182=)
NM_000512.5(GALNS):c.546G>A (p.Arg182=)
NM_000512.5(GALNS):c.555G>A (p.Glu185=)
NM_000512.5(GALNS):c.566+11C>T
NM_000512.5(GALNS):c.566+12C>T
NM_000512.5(GALNS):c.566+13C>T
NM_000512.5(GALNS):c.566+16C>G
NM_000512.5(GALNS):c.566+16C>T
NM_000512.5(GALNS):c.566+17C>T
NM_000512.5(GALNS):c.566+9G>A
NM_000512.5(GALNS):c.567-13G>A
NM_000512.5(GALNS):c.567-14T>C
NM_000512.5(GALNS):c.567-14T>G
NM_000512.5(GALNS):c.567-15C>T
NM_000512.5(GALNS):c.567-17A>G
NM_000512.5(GALNS):c.573T>C (p.Tyr191=)
NM_000512.5(GALNS):c.579A>G (p.Glu193=)
NM_000512.5(GALNS):c.592C>T (p.Leu198=)
NM_000512.5(GALNS):c.597G>A (p.Lys199=) rs1293689169
NM_000512.5(GALNS):c.600G>A (p.Thr200=)
NM_000512.5(GALNS):c.600G>T (p.Thr200=)
NM_000512.5(GALNS):c.609C>A (p.Ala203=)
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
NM_000512.5(GALNS):c.612C>T (p.Asn204=)
NM_000512.5(GALNS):c.615C>A (p.Leu205=)
NM_000512.5(GALNS):c.618C>T (p.Thr206=)
NM_000512.5(GALNS):c.633+13G>A
NM_000512.5(GALNS):c.633+13G>T
NM_000512.5(GALNS):c.633+13dup
NM_000512.5(GALNS):c.633+15A>G
NM_000512.5(GALNS):c.633+16C>T
NM_000512.5(GALNS):c.634-14G>T
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
NM_000512.5(GALNS):c.654G>A (p.Lys218=)
NM_000512.5(GALNS):c.657A>G (p.Arg219=)
NM_000512.5(GALNS):c.666G>A (p.Arg222=)
NM_000512.5(GALNS):c.672C>T (p.His224=)
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
NM_000512.5(GALNS):c.693T>C (p.Ala231=)
NM_000512.5(GALNS):c.696C>T (p.Val232=)
NM_000512.5(GALNS):c.702C>T (p.Ala234=)
NM_000512.5(GALNS):c.705G>A (p.Thr235=)
NM_000512.5(GALNS):c.705G>T (p.Thr235=)
NM_000512.5(GALNS):c.714C>G (p.Pro238=)
NM_000512.5(GALNS):c.714C>T (p.Pro238=)
NM_000512.5(GALNS):c.717C>A (p.Val239=)
NM_000512.5(GALNS):c.723C>G (p.Ala241=)
NM_000512.5(GALNS):c.732C>G (p.Pro244=)
NM_000512.5(GALNS):c.744C>G (p.Thr248=)
NM_000512.5(GALNS):c.753A>T (p.Arg251=)
NM_000512.5(GALNS):c.758+12C>A
NM_000512.5(GALNS):c.758+15C>T
NM_000512.5(GALNS):c.758+17T>C
NM_000512.5(GALNS):c.758+7C>T
NM_000512.5(GALNS):c.759-15G>C
NM_000512.5(GALNS):c.759-7C>A
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
NM_000512.5(GALNS):c.831C>T (p.Val277=)
NM_000512.5(GALNS):c.834G>A (p.Ala278=)
NM_000512.5(GALNS):c.861G>A (p.Ser287=)
NM_000512.5(GALNS):c.867C>T (p.Asn289=)
NM_000512.5(GALNS):c.870C>T (p.Gly290=)
NM_000512.5(GALNS):c.882T>A (p.Ile294=)
NM_000512.5(GALNS):c.888C>T (p.Ala296=)
NM_000512.5(GALNS):c.891C>T (p.Pro297=)
NM_000512.5(GALNS):c.898+11G>A
NM_000512.5(GALNS):c.898+12C>A
NM_000512.5(GALNS):c.898+13T>C
NM_000512.5(GALNS):c.898+7G>A
NM_000512.5(GALNS):c.898+8C>T
NM_000512.5(GALNS):c.899-12C>T
NM_000512.5(GALNS):c.899-14C>A rs771269427
NM_000512.5(GALNS):c.899-169_899-166del
NM_000512.5(GALNS):c.899-19A>T
NM_000512.5(GALNS):c.899-20C>T
NM_000512.5(GALNS):c.899-5C>T
NM_000512.5(GALNS):c.899-9C>G
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
NM_000512.5(GALNS):c.927G>A (p.Gly309=)
NM_000512.5(GALNS):c.930G>A (p.Lys310=)
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
NM_000512.5(GALNS):c.969C>G (p.Leu323=)
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
NM_000512.5(GALNS):c.984G>A (p.Gly328=)

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