ClinVar Miner

List of variants reported as likely pathogenic for Myofibrillar myopathy 1

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Total variants: 10
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HGVS dbSNP
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1371+1G>A rs748323823
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698

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