List of variants in gene EVC2 reported by OMIM

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)	rs137852928	0.00012
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	rs137852927	0.00008
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	rs753581033	0.00002
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)	rs137852925	0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)	rs1265421045	0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)	rs146538906	0.00001
NM_147127.5(EVC2):c.707-2A>G	rs1302074641	0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)	rs137852926	0.00001
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)	rs992326794
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

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