ClinVar Miner

List of variants reported as benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883 0.04801
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476 0.00458
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061 0.00429
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921 0.00186
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151 0.00092
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234 0.00040
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889

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