ClinVar Miner

List of variants in gene POMGNT1 reported as uncertain significance for Congenital Muscular Dystrophy, alpha-dystroglycan related

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264

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