ClinVar Miner

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

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Total variants: 16
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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.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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