ClinVar Miner

List of variants in gene combination LOC126806424, TTN reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
NM_001267550.2(TTN):c.59402del (p.Gly19801fs) rs1064793367
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs) rs2154185712
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.59535del (p.Asn19846fs) rs1559602980
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs) rs2154185645
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs) rs2154185625
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs) rs2154185622
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs) rs878854322
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter) rs1413760246
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59903del (p.Pro19968fs) rs2154185335
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs) rs2050313754
NM_001267550.2(TTN):c.59917del (p.Asp19973fs) rs2050315855
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter) rs2154185221
NM_001267550.2(TTN):c.59997del (p.Asn19999fs) rs2154185219
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter) rs794729277

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