ClinVar Miner

List of variants in gene GALNT3 studied for calcium metabolic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_004482.4(GALNT3):c.*281T>A rs13429321 0.39072
NM_004482.4(GALNT3):c.-295T>A rs111425435 0.02796
NM_004482.4(GALNT3):c.799G>T (p.Val267Phe) rs114933655 0.01135
NM_004482.4(GALNT3):c.*783A>G rs115493554 0.01034
NM_004482.4(GALNT3):c.669G>A (p.Val223=) rs13423840 0.00802
NM_004482.4(GALNT3):c.1827T>C (p.Asn609=) rs142136047 0.00763
NM_004482.4(GALNT3):c.*515G>A rs144354033 0.00728
NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile) rs146521644 0.00668
NM_004482.4(GALNT3):c.*186C>T rs183674066 0.00613
NM_004482.4(GALNT3):c.407A>G (p.Glu136Gly) rs114745771 0.00319
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) rs149809222 0.00293
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile) rs143647583 0.00222
NM_004482.4(GALNT3):c.*870A>T rs189290881 0.00180
NM_004482.4(GALNT3):c.-252C>T rs540533361 0.00115
NM_004482.4(GALNT3):c.507A>G (p.Arg169=) rs150682922 0.00092
NM_004482.4(GALNT3):c.-246A>C rs759149342 0.00091
NM_004482.4(GALNT3):c.189G>A (p.Leu63=) rs188814778 0.00041
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp) rs143136193 0.00036
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) rs147779149 0.00024
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) rs137853086 0.00021
NM_004482.4(GALNT3):c.504T>C (p.Thr168=) rs183709224 0.00015
NM_004482.4(GALNT3):c.-238C>T rs886055016 0.00013
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) rs146978168 0.00013
NM_004482.4(GALNT3):c.1194A>G (p.Val398=) rs150937941 0.00011
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) rs374713815 0.00007
NM_004482.4(GALNT3):c.*143G>A rs771919992 0.00006
NM_004482.4(GALNT3):c.*318T>G rs886055013 0.00006
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) rs756068998 0.00006
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) rs539221514 0.00006
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His) rs143396063 0.00004
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val) rs146096050 0.00004
NM_004482.4(GALNT3):c.600G>A (p.Thr200=) rs749981979 0.00004
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg) rs1204063782 0.00004
NM_004482.4(GALNT3):c.*27G>T rs775247455 0.00003
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys) rs764730691 0.00003
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn) rs377389049 0.00003
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) rs137853090 0.00003
NM_004482.3(GALNT3):c.-358C>T rs886055018 0.00002
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln) rs111875321 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004482.4(GALNT3):c.*28G>T rs1688303362 0.00001
NM_004482.4(GALNT3):c.*319A>C rs886055012 0.00001
NM_004482.4(GALNT3):c.-227C>T rs886055015 0.00001
NM_004482.4(GALNT3):c.-309G>A rs886055017 0.00001
NM_004482.4(GALNT3):c.-73C>T rs971726102 0.00001
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly) rs780631238 0.00001
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) rs779573886 0.00001
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) rs137853087 0.00001
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys) rs371697905 0.00001
NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter) rs775341386 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004482.4(GALNT3):c.838+10T>C rs201497875 0.00001
NM_004482.4(GALNT3):c.918T>C (p.Ile306=) rs753659298 0.00001
NM_004482.3(GALNT3):c.-346G>A rs1683418237
NM_004482.3(GALNT3):c.-370_-366delGCCTC rs886055019
NM_004482.4(GALNT3):c.*308TA[7] rs140333197
NM_004482.4(GALNT3):c.*806G>A rs1688290292
NM_004482.4(GALNT3):c.*897T>C rs886055010
NM_004482.4(GALNT3):c.*934dup rs144647329
NM_004482.4(GALNT3):c.*937C>T rs886055009
NM_004482.4(GALNT3):c.-138T>C rs1683412634
NM_004482.4(GALNT3):c.-191C>A rs1683414225
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) rs137853091
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) rs137853089
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr) rs886055014
NM_004482.4(GALNT3):c.1524+1G>A rs745655924
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004482.4(GALNT3):c.1626+6C>T rs774391241
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val) rs377579661
NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) rs267606841
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile) rs1688323295
NM_004482.4(GALNT3):c.516-2A>G
NM_004482.4(GALNT3):c.549C>A (p.Pro183=) rs144776270
NM_004482.4(GALNT3):c.677del (p.Ala226fs) rs786205250
NM_004482.4(GALNT3):c.897G>T (p.Thr299=) rs75931918
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) rs137853088

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