ClinVar Miner

List of variants in gene EVC2 reported as likely pathogenic for acrofacial dysostosis, Weyers type

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2830-1G>T
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.450+2T>C rs781096099

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