ClinVar Miner

List of variants in gene POGLUT1 studied for autosomal recessive limb-girdle muscular dystrophy type 2R1

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152305.3(POGLUT1):c.457-25G>A rs4688007 0.81781
NM_152305.3(POGLUT1):c.456+39G>T rs3732419 0.59158
NM_152305.3(POGLUT1):c.386T>C (p.Ile129Thr) rs1015531524 0.00001
NM_152305.3(POGLUT1):c.170A>G (p.Tyr57Cys)
NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)
NM_152305.3(POGLUT1):c.356T>C (p.Ile119Thr)
NM_152305.3(POGLUT1):c.547C>T (p.Arg183Trp)
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter) rs1560034617
NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu) rs550944082
NM_152305.3(POGLUT1):c.836G>A (p.Arg279Gln)

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