ClinVar Miner

List of variants in gene DES reported as likely pathogenic for Desmin-related myofibrillar myopathy

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001927.4(DES):c.1055T>C (p.Leu352Ser) rs775085773 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.679C>T (p.Arg227Cys) rs767743962 0.00001
NM_001927.4(DES):c.854C>T (p.Ala285Val) rs1368507241 0.00001
NC_000002.11:g.(?_220284797)_(220284897_?)dup
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) rs57496341
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup) rs1954437523
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1130T>C (p.Leu377Pro) rs1432061016
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.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1202A>G (p.Glu401Gly) rs1954444202
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser) rs2125168913
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1244+1G>A
NM_001927.4(DES):c.1288+2T>C
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1396C>T (p.Gln466Ter)
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.2T>C (p.Met1Thr) rs2125165615
NM_001927.4(DES):c.2T>G (p.Met1Arg)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.37T>C (p.Ser13Pro) rs1954359599
NM_001927.4(DES):c.3G>A (p.Met1Ile)
NM_001927.4(DES):c.579-2A>C
NM_001927.4(DES):c.732_735+3del
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.735+2T>G
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.821T>A (p.Leu274His)
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_001927.4(DES):c.949G>C (p.Ala317Pro)
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891

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