ClinVar Miner

List of variants in gene B3GALNT2 studied for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.10:g.(?_235628916)_(235629051_?)del
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) rs1553356108
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg) rs1553356208
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe) rs1553342963
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) rs143983025
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.763-1G>A
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.842-1G>C
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160

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