ClinVar Miner

List of variants studied for Desmin-related myofibrillar myopathy by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NC_000002.12:g.219426752T>C rs11685408 0.49560
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.*468G>T rs73085265 0.02797
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.*308C>A rs140222667 0.00235
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_001927.4(DES):c.*475T>G rs138913201 0.00131
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.*280G>A rs925513578 0.00024
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.*114G>T rs755277387 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
NM_001927.4(DES):c.*112C>G rs540351476 0.00004
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001927.4(DES):c.*428G>C rs886055654 0.00001
NM_001927.4(DES):c.*295G>A rs1954536782
NM_001927.4(DES):c.-54C>T rs1954355610
NM_001927.4(DES):c.-74C>T rs886055653
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.247T>C (p.Tyr83His) rs1954368990
NM_001927.4(DES):c.367A>C (p.Ile123Leu)
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001927.4(DES):c.897+4_897+5del rs397516699

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