ClinVar Miner

List of variants studied for muscular dystrophy-dystroglycanopathy, type A by Revvity Omics, Revvity

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln) rs200620643 0.00017
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569 0.00009
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469 0.00009
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn) rs138443370 0.00008
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097 0.00006
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala) rs375121424 0.00005
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly) rs953296331 0.00004
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr) rs922693472 0.00001
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu) rs369378819 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys) rs1041647688 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala) rs1684704696 0.00001
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn) rs377646173 0.00001
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser) rs775573521 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His) rs771483345 0.00001
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs) rs1276205801
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter) rs1300792331
NM_152490.5(B3GALNT2):c.1368+1G>C rs1479230229
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg) rs1437958242
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
NM_152490.5(B3GALNT2):c.652-1G>C rs2102815577
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) rs1685725563
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs) rs1469279569
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)

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