ClinVar Miner

List of variants in gene OPHN1 studied for X-linked disease

Included ClinVar conditions (275):
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
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
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
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.1081_1082insT (p.Glu361fs)
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
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.1225C>T (p.Arg409Cys) rs1064795031
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe) rs2077140176
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_002547.3(OPHN1):c.1526+1G>A rs2147429591
NM_002547.3(OPHN1):c.155-2A>C rs1064793755
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu) rs2147404496
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp) rs2147627388
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.184C>T (p.Gln62Ter) rs137854493
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.2035G>A (p.Asp679Asn) rs869312676
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val) rs2076902830
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
NM_002547.3(OPHN1):c.2159-1G>C rs2147349266
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.384+1G>A rs2147594453
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.597+1del
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.644_645del (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.702+4A>G rs2147481894
NM_002547.3(OPHN1):c.702+4A>T rs2147481894
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
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)
Single allele

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