ClinVar Miner

List of variants in gene B3GALNT2, TBCE studied for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser) rs772910525 0.00019
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569 0.00009
NM_152490.5(B3GALNT2):c.1434G>A (p.Pro478=) rs754116208 0.00004
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu) rs373773440 0.00003
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587 0.00002
NM_152490.5(B3GALNT2):c.1371C>T (p.Asp457=) rs200368164 0.00001
NM_152490.5(B3GALNT2):c.1372A>G (p.Ser458Gly) rs1344429713 0.00001
NM_152490.5(B3GALNT2):c.1446G>A (p.Thr482=) rs202105146 0.00001
NM_152490.5(B3GALNT2):c.1478_1479del (p.Asp493fs) rs759968980 0.00001
NC_000001.10:g.(?_235543365)_(235619016_?)dup
NC_000001.10:g.(?_235609505)_(235668781_?)dup
NM_003193.5(TBCE):c.*1584G>C rs1572474537
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.1369-4A>G
NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)
NM_152490.5(B3GALNT2):c.1388AGA[1] (p.Lys464del) rs2102962642
NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile) rs1682820322
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr) rs1572474424
NM_152490.5(B3GALNT2):c.1409T>A (p.Met470Lys)
NM_152490.5(B3GALNT2):c.1418CTC[1] (p.Pro474del) rs752758430
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.1425G>A (p.Gln475=) rs1682818290
NM_152490.5(B3GALNT2):c.1434G>T (p.Pro478=) rs754116208
NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)
NM_152490.5(B3GALNT2):c.1453_1454del (p.Trp485fs) rs1682814778
NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)
NM_152490.5(B3GALNT2):c.1461_1467delinsTC (p.Lys488fs)
NM_152490.5(B3GALNT2):c.1463A>G (p.Lys488Arg) rs201145660
NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)
NM_152490.5(B3GALNT2):c.1468C>A (p.Arg490=) rs751445150
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp) rs751445150
NM_152490.5(B3GALNT2):c.1469G>A (p.Arg490Gln)
NM_152490.5(B3GALNT2):c.1486C>G (p.Arg496Gly)
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter) rs151155734
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487

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