ClinVar Miner

List of variants in gene B3GALNT2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
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.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.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.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.843A>G (p.Glu281=) rs543981282 0.00011
NM_152490.5(B3GALNT2):c.-30G>A rs753576330 0.00009
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.396C>T (p.Ser132=) rs140100348 0.00004
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
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.1311+4_1311+5del rs754052311 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.-170G>C rs150368565
NM_152490.5(B3GALNT2):c.1152-19A>G rs1553342808
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=) rs1572482699
NM_152490.5(B3GALNT2):c.1368+242G>A rs374537773
NM_152490.5(B3GALNT2):c.556-280dup rs147124682
NM_152490.5(B3GALNT2):c.762+9dup rs555883725
NM_152490.5(B3GALNT2):c.841+286G>A rs115029704

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