ClinVar Miner

List of variants studied for Isolated cryptophthalmia; Fraser syndrome 2

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys) rs114229197 0.00042
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro) rs140937193 0.00031
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00030
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00020
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp) rs138416277 0.00016
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) rs138539682 0.00016
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val) rs141900626 0.00013
NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp) rs142322683 0.00013
NM_207361.6(FREM2):c.6421G>A (p.Glu2141Lys) rs376602370 0.00013
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys) rs553816676 0.00012
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_207361.6(FREM2):c.2075G>A (p.Arg692His) rs367642497 0.00010
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln) rs145484598 0.00008
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00006
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr) rs753652530 0.00006
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00006
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val) rs760834204 0.00006
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met) rs201978814 0.00006
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala) rs186980482 0.00005
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu) rs755744742 0.00004
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser) rs750450348 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) rs369891021 0.00003
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.2473G>A (p.Val825Met) rs757937131 0.00002
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met) rs773471950 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00001
NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser) rs559654259 0.00001
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00001
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val) rs776875620 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 0.00001
NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln) rs1367167650 0.00001
NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val) rs76419381 0.00001
NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala) rs746466859 0.00001
NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 0.00001
NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn) rs772357847 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala) rs532526246 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys) rs775185183 0.00001
NM_207361.6(FREM2):c.8342G>A (p.Arg2781His) rs756570666 0.00001
NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His) rs188920480 0.00001
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)
NM_207361.6(FREM2):c.2216G>A (p.Arg739His)
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.3737del (p.Thr1246fs)
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) rs548177107
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293

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