List of variants in gene COQ4 reported as likely pathogenic for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_016035.5(COQ4):c.202G>C (p.Asp68His)	rs758522459	0.00007
NM_016035.5(COQ4):c.202+4A>C	rs777821562	0.00003
NM_016035.5(COQ4):c.2T>C (p.Met1Thr)	rs1255137785	0.00001
NM_016035.5(COQ4):c.300-2A>G	rs141303335	0.00001
NM_016035.5(COQ4):c.70+2C>G	rs767839639	0.00001
NM_016035.5(COQ4):c.299+1G>A
NM_016035.5(COQ4):c.402+1G>A	rs747779231
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)	rs1163170578
NM_016035.5(COQ4):c.540del (p.Ile180fs)	rs2131235872
NM_016035.5(COQ4):c.70+1G>A

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