List of variants in gene OPHN1 reported as uncertain significance by Ambry Genetics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)	rs141368794	0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)	rs192628082	0.00006
NM_002547.3(OPHN1):c.1669A>G (p.Ile557Val)	rs764608956	0.00003
NM_002547.3(OPHN1):c.1831G>A (p.Glu611Lys)
NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)
NM_002547.3(OPHN1):c.2019G>C (p.Leu673Phe)
NM_002547.3(OPHN1):c.2024C>T (p.Ser675Phe)
NM_002547.3(OPHN1):c.2049G>C (p.Lys683Asn)	rs1555930474
NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)
NM_002547.3(OPHN1):c.2134C>T (p.Arg712Trp)
NM_002547.3(OPHN1):c.2144C>T (p.Ala715Val)
NM_002547.3(OPHN1):c.2185C>T (p.Arg729Trp)
NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)
NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)
NM_002547.3(OPHN1):c.448C>A (p.His150Asn)
NM_002547.3(OPHN1):c.529T>A (p.Ser177Thr)
NM_002547.3(OPHN1):c.56G>A (p.Arg19His)	rs1555988278
NM_002547.3(OPHN1):c.934-5A>G

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