List of variants in gene COLQ reported by Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.1196G>A (p.Arg399His)	rs375272767	0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	rs185829251	0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)	rs770045897	0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)	rs121908924	0.00001
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu)	rs758554049
NM_005677.4(COLQ):c.1076T>G (p.Leu359Arg)
NM_005677.4(COLQ):c.1132G>C (p.Gly378Arg)
NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile)	rs536042715
NM_005677.4(COLQ):c.815G>A (p.Gly272Glu)
NM_005677.4(COLQ):c.827_843del (p.Met276fs)
NM_005677.4:c.188_321del

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