ClinVar Miner

List of variants in gene combination ACADVL, DLG4 reported by Invitae

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
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.11C>A (p.Ala4Asp) rs1019684161
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly) rs747672165
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.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=)

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