ClinVar Miner

List of variants reported as pathogenic for cryptophthalmia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_025074.7(FRAS1):c.11298+1G>A rs371268544 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) rs186964660 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) rs1338479649 0.00001
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe) rs1399826348 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) rs1732862637 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter) rs535527511 0.00001
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter) rs372173451 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) rs748696533 0.00001
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) rs1460031293 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.9316+2T>A rs1358085095 0.00001
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys) rs121434355 0.00001
NC_000004.12:g.78268671_78298757del
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) rs397514486
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) rs2057189303
NM_001366722.1(GRIP1):c.2269+1G>C rs397514485
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer) rs886037765
NM_025074.7(FRAS1):c.10541-1G>A rs1721385740
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) rs1006839535
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter) rs1721821279
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter) rs1219344385
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter) rs1727394990
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs) rs1578380159
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) rs765622092
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs) rs1560433104
NM_025074.7(FRAS1):c.1399+1G>A rs1727490024
NM_025074.7(FRAS1):c.2376del (p.Ser793fs)
NM_025074.7(FRAS1):c.2692del (p.His898fs) rs2110296712
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter) rs1725182255
NM_025074.7(FRAS1):c.3293-2A>T rs2110319166
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter) rs120074158
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs) rs1732856311
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter) rs120074159
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs) rs1257736144
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5166del (p.Val1723fs) rs2110390266
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs) rs1734259370
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter) rs1432850828
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs) rs753831692
NM_025074.7(FRAS1):c.5664_5665+19delinsT rs886037766
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs) rs1725743022
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs) rs1718790934
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs) rs1718847595
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter) rs1578330963
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.688-5T>G rs775548230
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.8098+1G>T rs376088537
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter) rs120074156
NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter) rs120074157
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter) rs1227013948
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter) rs377369857
NM_207361.6(FREM2):c.1266del (p.Asp423fs) rs1869623039
NM_207361.6(FREM2):c.15del (p.Thr6fs) rs1869502750
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) rs1869683236
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575
NM_207361.6(FREM2):c.399del (p.Gly134fs) rs1869545423
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter) rs1566133616
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) rs1877244252
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) rs1869579851
NM_207361.6(FREM2):c.7519+1G>A rs1566169711
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)

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