ClinVar Miner

List of variants in gene EVC2 studied for Jeune thoracic dystrophy

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Total variants: 5
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HGVS dbSNP
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323

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