List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2O

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
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.187C>T (p.Arg63Ter)	rs193919337	0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)	rs770188918	0.00001
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup	rs966546165
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	rs727504103

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