ClinVar Miner

List of variants in gene combination EVC2, LOC126806961 reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1470+1G>C	rs1577194652
NM_147127.5(EVC2):c.1470+2T>C

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