List of variants in gene EVC, LOC129992144 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	rs756852655	0.00191
NM_153717.3(EVC):c.14G>T (p.Gly5Val)	rs939779373	0.00007
NM_153717.3(EVC):c.27G>C (p.Lys9Asn)	rs1474600088	0.00001
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)	rs1445771901
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)	rs2474190601
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.16del (p.Ala6fs)	rs2151766718
NM_153717.3(EVC):c.1A>C (p.Met1Leu)	rs1324604027
NM_153717.3(EVC):c.1A>G (p.Met1Val)	rs1324604027
NM_153717.3(EVC):c.21C>G (p.Ala7=)	rs1722983465
NM_153717.3(EVC):c.24C>T (p.Cys8=)	rs2474191907
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)	rs1553857828
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)	rs1425513399
NM_153717.3(EVC):c.27G>A (p.Lys9=)	rs1474600088
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)	rs1553857801
NM_153717.3(EVC):c.9C>A (p.Arg3=)	rs1330946337

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