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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_002547.3(OPHN1):c.702+11A>C	rs375325266	0.00125
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)	rs374431961	0.00011
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)	rs773508976	0.00008
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)	rs141368794	0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)	rs192628082	0.00006
NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu)	rs1175919760	0.00002
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)	rs770608210	0.00001
NM_002547.3(OPHN1):c.1201+3A>G	rs1482683297	0.00001
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)	rs771624663	0.00001
NM_002547.3(OPHN1):c.148A>G (p.Met50Val)	rs367993068	0.00001
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)	rs763066236	0.00001
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)	rs2077140176
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)	rs866834118
NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)	rs2078108310
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val)	rs2076902830
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
NM_002547.3(OPHN1):c.2159-4C>T	rs587784233
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)	rs2077578419
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)

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