List of variants in gene EVC reported as pathogenic for Short-rib thoracic dysplasia 6 with or without polydactyly

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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T	rs794726665	0.00036
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425	0.00003
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	rs755381180

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