List of variants in gene combination EVC2, LOC126806962 reported as likely benign for acrofacial dysostosis, Weyers type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1005+3G>A	rs141371552	0.00080
NM_147127.5(EVC2):c.984A>T (p.Gly328=)	rs1023236102	0.00014
NM_147127.5(EVC2):c.1005+15A>C	rs752062199	0.00001
NM_147127.5(EVC2):c.1005+11C>G	rs2475514625
NM_147127.5(EVC2):c.1005+14G>A	rs2475514620
NM_147127.5(EVC2):c.1005+17G>A	rs1435460883
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=)	rs1023236102
NM_147127.5(EVC2):c.987C>T (p.Asn329=)	rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)	rs2475514799
NM_147127.5(EVC2):c.996C>T (p.Thr332=)	rs2475514770

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