ClinVar Miner

List of variants reported as likely benign for isolated cryptophthalmia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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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.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.9007-8C>T rs374741888 0.00021
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
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.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00001
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)
NM_207361.6(FREM2):c.2216G>A (p.Arg739His)
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)
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.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

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