ClinVar Miner

List of variants reported as benign for Autosomal recessive limb-girdle muscular dystrophy type 2N

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658

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