List of variants in gene OPHN1 reported as pathogenic for central nervous system malformation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.68119248_68212212dup
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NM_002547.2(OPHN1):c.313_326del
NM_002547.3(OPHN1):c.1138+1G>A	rs1602226670
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)	rs1569215382
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)	rs1569211016
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp)	rs2147627388
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)	rs137854493
NM_002547.3(OPHN1):c.2159-1G>C	rs2147349266
NM_002547.3(OPHN1):c.384+1G>A	rs2147594453
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)	rs587784234
NM_002547.3(OPHN1):c.597+2T>C	rs2147484573
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)	rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)	rs1569243931
Single allele

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