List of variants in gene AIFM1, LOC130068679, RAB33A studied for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)	rs61730896	0.00489
NM_004208.4(AIFM1):c.-165G>A	rs759015293	0.00092
NM_004208.4(AIFM1):c.106+15C>G	rs199863662	0.00059
NM_004208.4(AIFM1):c.72C>T (p.Cys24=)	rs373609902	0.00051
NM_004208.4(AIFM1):c.54C>G (p.Pro18=)	rs140076585	0.00049
NM_004208.4(AIFM1):c.-140C>G	rs770737305	0.00022
NM_004208.4(AIFM1):c.63G>A (p.Arg21=)	rs756253535	0.00004
NM_004208.4(AIFM1):c.29G>A (p.Gly10Asp)	rs143831137	0.00003
NM_004208.4(AIFM1):c.75C>T (p.Val25=)	rs370229006	0.00002
NM_004208.4(AIFM1):c.8G>A (p.Arg3Gln)	rs769299264	0.00002
NM_004208.4(AIFM1):c.74T>C (p.Val25Ala)	rs912356394	0.00001
NM_004208.4(AIFM1):c.-90G>C	rs780436043
NM_004208.4(AIFM1):c.106+10C>T
NM_004208.4(AIFM1):c.106+12A>C
NM_004208.4(AIFM1):c.106+19G>A	rs1381150691
NM_004208.4(AIFM1):c.106+20C>T	rs2124682291
NM_004208.4(AIFM1):c.106+3dup
NM_004208.4(AIFM1):c.19C>T (p.Leu7=)
NM_004208.4(AIFM1):c.23C>T (p.Ala8Val)
NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)
NM_004208.4(AIFM1):c.42G>A (p.Gln14=)
NM_004208.4(AIFM1):c.46C>T (p.Leu16=)
NM_004208.4(AIFM1):c.51G>T (p.Val17=)
NM_004208.4(AIFM1):c.74T>G (p.Val25Gly)	rs912356394
NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)
NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)
NM_004208.4(AIFM1):c.98_103del (p.Arg33_Leu34del)

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