ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2O by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004

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