ClinVar Miner

List of variants in gene HECW2 studied for Mobius syndrome

Included ClinVar conditions (1):

Oromandibular-limb hypogenesis spectrum

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn)	rs552109642	0.00003
NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del)	rs774571391	0.00001
NM_001348768.2(HECW2):c.2264AAG[2] (p.Glu757del)	rs757981529

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