ClinVar Miner

List of variants in gene OPHN1 reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NG_008960.1:g.224486-?_245539+?del
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.642_643TG[1] (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
OPHN1, 17.6-KB DEL

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