List of variants in gene OPHN1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002547.3(OPHN1):c.1025+2T>C	rs1602231145
NM_002547.3(OPHN1):c.1105-1G>T	rs1555951715
NM_002547.3(OPHN1):c.1256del (p.Lys419fs)	rs1602225800
NM_002547.3(OPHN1):c.1277-1G>C	rs1064797373
NM_002547.3(OPHN1):c.155-1G>A

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