List of variants in gene combination LOC130056175, POMT2 reported as likely pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)	rs746803006	0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)	rs754512099	0.00001
NM_013382.7(POMT2):c.672del (p.Trp225fs)	rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs)	rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)	rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs)	rs755660222

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