ClinVar Miner

List of variants in gene OPHN1 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961
NM_002547.3(OPHN1):c.702+11A>C rs375325266

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