ClinVar Miner

List of variants reported as uncertain significance for myofibrillar myopathy 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
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.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.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 0.00013
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
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

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