ClinVar Miner

List of variants in gene OPHN1 reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.2324+10G>T rs144475530 0.00256
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00129
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003

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