List of variants in gene EVC2, LOC126806962 studied for Ellis-van Creveld syndrome; 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1005+3G>A	rs141371552	0.00082
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp)	rs148884226	0.00017
NM_147127.5(EVC2):c.984A>T (p.Gly328=)	rs1023236102	0.00016
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)	rs370838180	0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)	rs368314615	0.00004
NM_147127.5(EVC2):c.1000C>T (p.His334Tyr)
NM_147127.5(EVC2):c.1004G>A (p.Arg335Gln)
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1005+7C>G	rs1453329419
NM_147127.5(EVC2):c.981G>A (p.Lys327=)	rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=)	rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)

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