ClinVar Miner

List of variants in gene combination LOC130065433, NDUFAF5 reported as likely pathogenic for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.11dup (p.Ala5fs)
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_024120.5(NDUFAF5):c.165_166del (p.Lys56fs)
NM_024120.5(NDUFAF5):c.183_190dup (p.Glu64fs)
NM_024120.5(NDUFAF5):c.1A>C (p.Met1Leu)
NM_024120.5(NDUFAF5):c.23G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs) rs2147463824
NM_024120.5(NDUFAF5):c.30_31del (p.Cys11fs)
NM_024120.5(NDUFAF5):c.33T>A (p.Cys11Ter)
NM_024120.5(NDUFAF5):c.37C>T (p.Arg13Ter)
NM_024120.5(NDUFAF5):c.44G>A (p.Trp15Ter) rs576780935
NM_024120.5(NDUFAF5):c.46del (p.Ala16fs)
NM_024120.5(NDUFAF5):c.85delinsAA (p.Val29fs)

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