ClinVar Miner

List of variants in gene OPHN1 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del) rs2078892867
NM_002547.3(OPHN1):c.1202-1G>A rs2147456067
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002547.3(OPHN1):c.1526+1G>A rs2147429591
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu) rs2147404496
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002547.3(OPHN1):c.597+1del
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.702+4A>G rs2147481894
NM_002547.3(OPHN1):c.702+4A>T rs2147481894

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