List of variants in gene GFM1 reported as benign 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.*226C>T	rs1047366	0.58206
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	rs2303909	0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=)	rs1864507	0.58169
NM_024996.7(GFM1):c.81+84C>G	rs1864505	0.42613
NM_024996.7(GFM1):c.*6C>T	rs1047355	0.42265
NM_024996.7(GFM1):c.*691T>A	rs8650	0.42246
NM_024996.7(GFM1):c.690-87A>G	rs9810874	0.42203
NM_024996.7(GFM1):c.1083+82T>C	rs9884039	0.42175
NM_024996.7(GFM1):c.1083+57C>T	rs62286656	0.36155
NM_024996.7(GFM1):c.81+22A>G	rs1864506	0.35797
NM_024996.7(GFM1):c.689+891C>T	rs56167308	0.17770
NM_024996.7(GFM1):c.-33C>T	rs28372852	0.17766
NM_024996.7(GFM1):c.1323+83A>G	rs2291595	0.15507
NM_024996.7(GFM1):c.1323+72A>G	rs2291594	0.10832
NM_024996.7(GFM1):c.*713C>T	rs16829307	0.02621
NM_024996.7(GFM1):c.-11C>T	rs112860155	0.01649
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)	rs62288347	0.01504
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	rs34297061	0.01346
NM_024996.7(GFM1):c.1601+9G>C	rs77186707	0.01234
NM_024996.7(GFM1):c.1083+6T>G	rs142919829	0.00965
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	rs35942089	0.00900
NM_024996.7(GFM1):c.1209C>T (p.Ala403=)	rs149949638	0.00899
NM_024996.7(GFM1):c.-31A>G	rs28372853	0.00742
NM_024996.7(GFM1):c.*766G>T	rs114751518	0.00689
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)	rs75450876	0.00510
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	rs114754676	0.00399
NM_024996.7(GFM1):c.*731C>T	rs189114088	0.00074
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)	rs574200635	0.00002
NM_024996.7(GFM1):c.1519-25A>G	rs7628497

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