List of variants in gene POMGNT1 reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2O

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.-11G>A	rs80107141	0.00484
NM_017739.4(POMGNT1):c.120+13C>T	rs12737140	0.00459
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	rs150576537	0.00250
NM_017739.4(POMGNT1):c.236-13T>C	rs150578902	0.00196
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.46C>T (p.Arg16Trp)	rs34058684	0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)	rs751402236	0.00002
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.226C>A (p.Gln76Lys)	rs972657462
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)	rs200227264

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