ClinVar Miner

List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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Total variants: 69
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HGVS dbSNP
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235658148_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
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.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.1207C>T (p.Pro403Ser)
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu) rs554797006
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr)
NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser)
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569
NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile)
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr) rs1572474424
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu) rs373773440
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587
NM_152490.5(B3GALNT2):c.1453_1454del (p.Trp485fs)
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp) rs751445150
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser) rs772910525
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=)
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser) rs1572547857
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val) rs1572539209
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg)
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.458A>G (p.Tyr153Cys)
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469
NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr)
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418
NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His)
NM_152490.5(B3GALNT2):c.555+5G>A
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser)
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly)
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly) rs113948040
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile)
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile) rs779469431
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.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe)
NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp)
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg) rs955249712
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160

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