ClinVar Miner

List of variants in gene B3GALNT2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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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.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_152490.5(B3GALNT2):c.361+19T>C rs190977329 0.00155
NC_000001.11:g.235504601G>T rs115918576
NM_152490.5(B3GALNT2):c.-138=
NM_152490.5(B3GALNT2):c.1025+47dup rs371056899
NM_152490.5(B3GALNT2):c.1026-48TTTG[2] rs138874913
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.260+224= rs34730227
NM_152490.5(B3GALNT2):c.261-203del rs11299116
NM_152490.5(B3GALNT2):c.555+7=
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

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