ClinVar Miner

List of variants in gene ACADVL, DLG4 studied for cardiomyopathy

Included ClinVar conditions (522):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001033859.2(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile) rs768236474 0.00004
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.33G>A (p.Gly11=) rs975427927 0.00001
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp) rs769290349 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.4(ACADVL):c.54G>A (p.Gly18=) rs759918601 0.00001
NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn) rs753922855 0.00001
NM_000018.3(ACADVL):c.-132C>T rs886053371
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC rs6145976
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC rs753389263
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT rs1555527399
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG rs1555527393
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA rs1555527401
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG rs1555527385
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp) rs1019684161
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly) rs747672165
NM_000018.4(ACADVL):c.16_32del (p.Met6fs) rs1555527450
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp) rs2142959240
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
NM_000018.4(ACADVL):c.24G>C (p.Ala8=) rs903824712
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
NM_000018.4(ACADVL):c.28T>C (p.Leu10=) rs1265116066
NM_000018.4(ACADVL):c.30G>A (p.Leu10=) rs2142959363
NM_000018.4(ACADVL):c.33del (p.Arg12fs) rs1555527464
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter) rs63750670
NM_000018.4(ACADVL):c.39G>A (p.Gln13=) rs1481490993
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
NM_000018.4(ACADVL):c.62+1G>A rs2071111529
NM_000018.4(ACADVL):c.62+1G>T
NM_000018.4(ACADVL):c.62+2T>C
NM_000018.4(ACADVL):c.62+4TG[2]
NM_000018.4(ACADVL):c.62+4TG[3] rs777656865
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)
NM_001321075.3(DLG4):c.-27C>T rs1555526472
NM_001365.5(DLG4):c.159+435_159+439del rs1178274476
NM_001365.5(DLG4):c.159+439_159+444dup rs1258394272
NM_001365.5(DLG4):c.159+455G>T
NM_001365.5(DLG4):c.159+465C>T rs1555526671
NM_001365.5(DLG4):c.159+472G>A rs1555526667
NM_001365.5(DLG4):c.159+487G>A rs1237915800
NM_001365.5(DLG4):c.159+489GCTTCT[3] rs1555526655

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