List of variants in gene GFM1 reported as pathogenic for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_024996.7(GFM1):c.720del (p.Glu241fs)	rs745718158	0.00004
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	rs541171482	0.00003
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	rs119470019	0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	rs1004779078	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	rs780762234	0.00002
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)	rs1390685552	0.00001
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	rs767325554	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)	rs781397040	0.00001
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)	rs1576745248
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)	rs866604517
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	rs757691557
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	rs779877297
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	rs119470020
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)	rs1560135485
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	rs1576757241
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)	rs143031224
NM_024996.7(GFM1):c.1765-2_1765-1del	rs1245712932
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	rs62286651
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	rs1576721522
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	rs863224030
NM_024996.7(GFM1):c.539del (p.Gly180fs)	rs1362847020
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)

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