ClinVar Miner

List of variants in gene B3GALNT2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.362-194= rs291388 0.53920
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_152490.5(B3GALNT2):c.112+224= rs704721 0.53642
NM_152490.5(B3GALNT2):c.112+205= rs381674 0.53641
NC_000001.11:g.235504679= rs182366 0.53442
NM_152490.5(B3GALNT2):c.841+45= rs1305556 0.53358
NM_152490.5(B3GALNT2):c.112+255= rs704720 0.53229
NM_152490.5(B3GALNT2):c.651+270= rs291383 0.27922
NM_152490.5(B3GALNT2):c.112+311C>T rs12563639 0.16962
NM_152490.5(B3GALNT2):c.1368+93A>G rs6702967 0.13312
NM_152490.5(B3GALNT2):c.-190C>A rs75700660 0.08242
NM_152490.5(B3GALNT2):c.1311+185A>T rs16832625 0.04973
NM_152490.5(B3GALNT2):c.361+180A>G rs59473581 0.04956
NM_152490.5(B3GALNT2):c.361+192C>T rs76726286 0.02378
NM_152490.5(B3GALNT2):c.260+184A>G rs74151514 0.02375
NM_152490.5(B3GALNT2):c.1368+55A>G rs189833358 0.01056
NM_152490.5(B3GALNT2):c.651+134T>A rs79887983 0.01038
NM_152490.5(B3GALNT2):c.763-295A>G rs144758113 0.00860
NM_152490.5(B3GALNT2):c.113-115G>A rs12067255 0.00702
NM_152490.5(B3GALNT2):c.1312-213G>A rs139783604 0.00623
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_152490.5(B3GALNT2):c.762+326C>T rs114483629 0.00617
NM_152490.5(B3GALNT2):c.556-214G>A rs114845266 0.00603
NM_152490.5(B3GALNT2):c.260+75T>G rs545204715 0.00499
NM_152490.5(B3GALNT2):c.113-315G>T rs563675435 0.00495
NM_152490.5(B3GALNT2):c.261-162T>A rs148429583 0.00391
NM_152490.5(B3GALNT2):c.361+49A>G rs185476916 0.00389
NM_152490.5(B3GALNT2):c.361+126G>T rs147786349 0.00388
NM_152490.5(B3GALNT2):c.1026-33G>A rs187930203 0.00323
NM_152490.5(B3GALNT2):c.361+19T>C rs190977329 0.00155
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725 0.00070
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710 0.00064
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145 0.00036
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904 0.00029
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631 0.00024
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326 0.00022
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=) rs543981282 0.00011
NM_152490.5(B3GALNT2):c.-30G>A rs753576330 0.00009
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469 0.00009
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys) rs144258088 0.00006
NM_152490.5(B3GALNT2):c.737G>A (p.Gly246Glu) rs1057523985 0.00006
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979 0.00005
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=) rs139582216 0.00005
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala) rs375121424 0.00005
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=) rs140100348 0.00004
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538 0.00004
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly) rs113948040 0.00004
NM_152490.5(B3GALNT2):c.97G>A (p.Gly33Arg) rs1006228968 0.00003
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732 0.00002
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=) rs369467106 0.00002
NM_152490.5(B3GALNT2):c.362-12C>T rs546633200 0.00002
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976 0.00001
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608 0.00001
NM_152490.5(B3GALNT2):c.1311+4_1311+5del rs754052311 0.00001
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys) rs1041647688 0.00001
NM_152490.5(B3GALNT2):c.225G>A (p.Met75Ile) rs773962539 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.651+5A>C rs750146613 0.00001
NM_152490.5(B3GALNT2):c.693C>T (p.His231=) rs150831923 0.00001
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=) rs777394575 0.00001
NM_152490.5(B3GALNT2):c.743G>C (p.Gly248Ala) rs201822310 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NC_000001.11:g.235504601G>T rs115918576
NM_152490.5(B3GALNT2):c.-138=
NM_152490.5(B3GALNT2):c.-170G>C rs150368565
NM_152490.5(B3GALNT2):c.-2C>T
NM_152490.5(B3GALNT2):c.1025+47dup rs371056899
NM_152490.5(B3GALNT2):c.1026-48TTTG[2] rs138874913
NM_152490.5(B3GALNT2):c.104G>A (p.Gly35Asp) rs1057522172
NM_152490.5(B3GALNT2):c.112+271= rs704719
NM_152490.5(B3GALNT2):c.112+42del rs149884283
NM_152490.5(B3GALNT2):c.1151+73dup rs541342884
NM_152490.5(B3GALNT2):c.1152-19A>G rs1553342808
NM_152490.5(B3GALNT2):c.1274G>A (p.Trp425Ter) rs1558407945
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=) rs1572482699
NM_152490.5(B3GALNT2):c.1304_1305delinsTACCTGATAGG (p.Thr435delinsIleProAspArg)
NM_152490.5(B3GALNT2):c.1368+242G>A rs374537773
NM_152490.5(B3GALNT2):c.260+224= rs34730227
NM_152490.5(B3GALNT2):c.261-1G>A rs1045409136
NM_152490.5(B3GALNT2):c.261-203del rs11299116
NM_152490.5(B3GALNT2):c.404C>T (p.Thr135Ile) rs1064796873
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) rs143983025
NM_152490.5(B3GALNT2):c.555+5G>T rs373909279
NM_152490.5(B3GALNT2):c.555+7=
NM_152490.5(B3GALNT2):c.556-280dup rs147124682
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.762+231dup rs143483542
NM_152490.5(B3GALNT2):c.762+258_762+259dup rs35802636
NM_152490.5(B3GALNT2):c.762+274= rs35802636
NM_152490.5(B3GALNT2):c.762+9dup rs555883725
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs) rs1064793673
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.841+286G>A rs115029704
NM_152490.5(B3GALNT2):c.94_96del (p.Ser32del) rs1169838120

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