ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial trifunctional protein deficiency

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.209+1G>A rs113112630 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000183.3(HADHB):c.1013+2T>G
NM_000183.3(HADHB):c.1014-2A>T
NM_000183.3(HADHB):c.1062-1G>T
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr) rs1370999216
NM_000183.3(HADHB):c.110-1G>A
NM_000183.3(HADHB):c.110-2A>T
NM_000183.3(HADHB):c.1100del (p.Gly367fs)
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1149+1G>T
NM_000183.3(HADHB):c.1149+2T>C
NM_000183.3(HADHB):c.1150-1G>C
NM_000183.3(HADHB):c.1150-1G>T
NM_000183.3(HADHB):c.1150-2A>G rs2147832276
NM_000183.3(HADHB):c.1224+1G>A
NM_000183.3(HADHB):c.1225-1G>A
NM_000183.3(HADHB):c.1334T>G (p.Leu445Ter)
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.1389+1G>A
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.255-2del
NM_000183.3(HADHB):c.343dup (p.Val115fs)
NM_000183.3(HADHB):c.354+1G>T
NM_000183.3(HADHB):c.354+2T>C
NM_000183.3(HADHB):c.389C>T (p.Pro130Leu)
NM_000183.3(HADHB):c.392C>T (p.Ala131Val) rs1672558537
NM_000183.3(HADHB):c.407T>C (p.Met136Thr) rs750956714
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) rs200718690
NM_000183.3(HADHB):c.466C>T (p.Gln156Ter)
NM_000183.3(HADHB):c.490G>A (p.Gly164Ser)
NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)
NM_000183.3(HADHB):c.631-2A>C rs1574663316
NM_000183.3(HADHB):c.811+1G>A
NM_000183.3(HADHB):c.811+2T>G
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.820dup (p.Thr274fs)
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000183.3(HADHB):c.962del (p.Met321fs)

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