ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant distal myopathy by Baylor Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer) rs2470985275
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs) rs2470325660
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001458.5(FLNC):c.46dup (p.Asp16fs) rs2536604779
NM_001458.5(FLNC):c.7581del (p.Ile2527fs) rs1809098380
NM_001458.5(FLNC):c.7925del (p.Gly2642fs) rs1809149761

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