ClinVar Miner

List of variants in gene combination EVC, LOC129992144 reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)

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