List of variants in gene EVC2 studied for Curry-Hall syndrome

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_147127.5(EVC2):c.3507C>T (p.His1169=)	rs12511039	0.28547
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)	rs4689278	0.21710
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)	rs138128087	0.00028
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	rs767072839	0.00006
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)	rs776830520	0.00003
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)	rs186197620
NM_147127.5(EVC2):c.3793del (p.Leu1265fs)	rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)	rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)	rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)	rs1560121645
NM_147127.5(EVC2):c.50dup (p.Leu18fs)	rs1553855151

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