ClinVar Miner

List of variants reported as uncertain significance for Hypomyelination and Congenital Cataract

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_032581.4(HYCC1):c.-111G>A rs183608311 0.00401
NM_032581.4(HYCC1):c.*2044A>G rs76692254 0.00317
NM_032581.4(HYCC1):c.*4255A>G rs562064414 0.00307
NM_032581.4(HYCC1):c.*66G>A rs188273700 0.00111
NM_032581.4(HYCC1):c.*2904A>T rs565649812 0.00089
NM_032581.4(HYCC1):c.582C>T (p.Tyr194=) rs148453182 0.00086
NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro) rs142984808 0.00070
NM_032581.4(HYCC1):c.*77C>G rs566103896 0.00062
NM_032581.4(HYCC1):c.*1008G>A rs185370892 0.00059
NM_032581.4(HYCC1):c.*829T>C rs886062207 0.00051
NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile) rs151228394 0.00049
NM_032581.4(HYCC1):c.262G>T (p.Ala88Ser) rs138296939 0.00043
NM_032581.4(HYCC1):c.-29+4A>T rs886062213 0.00037
NM_032581.4(HYCC1):c.*99G>A rs532878576 0.00029
NM_032581.4(HYCC1):c.972T>G (p.Gly324=) rs200916070 0.00029
NM_032581.4(HYCC1):c.864T>G (p.His288Gln) rs190147276 0.00025
NM_032581.4(HYCC1):c.831+10T>C rs199912375 0.00020
NM_032581.4(HYCC1):c.*3491A>T rs142056277 0.00017
NM_032581.4(HYCC1):c.*2286G>A rs774168438 0.00013
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=) rs373948210 0.00013
NM_032581.4(HYCC1):c.*3167T>G rs757408164 0.00012
NM_032581.4(HYCC1):c.1085C>T (p.Ser362Leu) rs144706867 0.00012
NM_032581.4(HYCC1):c.1148G>A (p.Arg383Gln) rs146436512 0.00012
NM_032581.4(HYCC1):c.*3739A>G rs918067483 0.00011
NM_032581.4(HYCC1):c.1220G>A (p.Arg407Gln) rs753315808 0.00011
NM_032581.4(HYCC1):c.*1878T>G rs778469120 0.00010
NM_032581.4(HYCC1):c.*4043A>G rs886062196 0.00010
NM_032581.4(HYCC1):c.628A>G (p.Ile210Val) rs372377823 0.00009
NM_032581.4(HYCC1):c.968G>A (p.Arg323Lys) rs200744437 0.00009
NM_032581.4(HYCC1):c.356A>G (p.His119Arg) rs566774657 0.00008
NM_032581.4(HYCC1):c.416C>T (p.Pro139Leu) rs140154050 0.00008
NM_032581.4(HYCC1):c.461A>G (p.Gln154Arg) rs146695960 0.00008
NM_032581.4(HYCC1):c.*2001T>A rs886062201 0.00007
NM_032581.4(HYCC1):c.302T>C (p.Ile101Thr) rs780427026 0.00007
NM_032581.4(HYCC1):c.932G>A (p.Arg311Gln) rs148168726 0.00007
NM_032581.4(HYCC1):c.*4329del rs886062194 0.00006
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser) rs201252505 0.00005
NM_032581.4(HYCC1):c.74C>T (p.Pro25Leu) rs981766260 0.00005
NM_032581.4(HYCC1):c.*1007T>C rs886062206 0.00004
NM_032581.4(HYCC1):c.*1596A>G rs886062203 0.00004
NM_032581.4(HYCC1):c.*1773C>T rs1360086630 0.00004
NM_032581.4(HYCC1):c.*2654G>A rs921143400 0.00004
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=) rs768075744 0.00004
NM_032581.4(HYCC1):c.1397C>T (p.Pro466Leu) rs762851762 0.00004
NM_032581.4(HYCC1):c.500C>T (p.Pro167Leu) rs546861751 0.00004
NM_032581.4(HYCC1):c.775G>A (p.Ala259Thr) rs1031404624 0.00004
NM_032581.4(HYCC1):c.*1382G>A rs907876089 0.00003
NM_032581.4(HYCC1):c.1479C>T (p.Tyr493=) rs759045816 0.00003
NM_032581.4(HYCC1):c.*416G>A rs972180494 0.00002
NM_032581.4(HYCC1):c.*94G>A rs886062209 0.00002
NM_032581.4(HYCC1):c.-89C>T rs1439064704 0.00002
NM_032581.4(HYCC1):c.1067C>T (p.Ala356Val) rs752176038 0.00002
NM_032581.4(HYCC1):c.1291A>G (p.Ser431Gly) rs1289064810 0.00002
NM_032581.4(HYCC1):c.1340C>T (p.Ala447Val) rs777996428 0.00002
NM_032581.4(HYCC1):c.626+5A>G rs778280191 0.00002
NM_032581.4(HYCC1):c.733T>A (p.Tyr245Asn) rs377444390 0.00002
NM_032581.3(HYCC1):c.-256C>T rs963713067 0.00001
NM_032581.4(HYCC1):c.*1428T>C rs571330609 0.00001
NM_032581.4(HYCC1):c.*1750G>A rs536545875 0.00001
NM_032581.4(HYCC1):c.*1796A>G rs886062202 0.00001
NM_032581.4(HYCC1):c.*1812C>A rs183351542 0.00001
NM_032581.4(HYCC1):c.*2060A>G rs1302575088 0.00001
NM_032581.4(HYCC1):c.*2108G>A rs549000863 0.00001
NM_032581.4(HYCC1):c.*232T>C rs527271452 0.00001
NM_032581.4(HYCC1):c.*2878T>G rs75640317 0.00001
NM_032581.4(HYCC1):c.*2905T>C rs546858657 0.00001
NM_032581.4(HYCC1):c.*4219T>A rs886062195 0.00001
NM_032581.4(HYCC1):c.*452G>T rs570337414 0.00001
NM_032581.4(HYCC1):c.*515A>T rs549927461 0.00001
NM_032581.4(HYCC1):c.*622G>A rs1036494086 0.00001
NM_032581.4(HYCC1):c.1076C>T (p.Thr359Ile) rs1430992002 0.00001
NM_032581.4(HYCC1):c.1135A>G (p.Lys379Glu) rs910400018 0.00001
NM_032581.4(HYCC1):c.1184A>G (p.Glu395Gly) rs972215357 0.00001
NM_032581.4(HYCC1):c.1423G>A (p.Gly475Arg) rs1222195168 0.00001
NM_032581.4(HYCC1):c.1504A>G (p.Met502Val) rs765967900 0.00001
NM_032581.4(HYCC1):c.154-7C>T rs1396582506 0.00001
NM_032581.4(HYCC1):c.379A>T (p.Ile127Phe) rs760909625 0.00001
NM_032581.4(HYCC1):c.443C>T (p.Thr148Ile) rs1784748343 0.00001
NM_032581.4(HYCC1):c.530+14A>G rs886062212 0.00001
NC_000007.14:g.(?_22964395)_(22991131_?)del
NM_032581.4(HYCC1):c.*1059G>A rs573861679
NM_032581.4(HYCC1):c.*1255A>G rs886062205
NM_032581.4(HYCC1):c.*1319T>C rs1783968903
NM_032581.4(HYCC1):c.*1358C>G rs774463731
NM_032581.4(HYCC1):c.*1443G>A rs1783965501
NM_032581.4(HYCC1):c.*1481G>C rs886062204
NM_032581.4(HYCC1):c.*180G>A rs886062208
NM_032581.4(HYCC1):c.*2062G>T rs886062200
NM_032581.4(HYCC1):c.*2081T>C rs982425822
NM_032581.4(HYCC1):c.*2111G>A rs886062199
NM_032581.4(HYCC1):c.*2822A>T rs886062198
NM_032581.4(HYCC1):c.*3046G>A rs1025056531
NM_032581.4(HYCC1):c.*314T>C rs1783994218
NM_032581.4(HYCC1):c.*3278G>A rs575381899
NM_032581.4(HYCC1):c.*3486_*3489del rs545140159
NM_032581.4(HYCC1):c.*3575A>G rs1783914519
NM_032581.4(HYCC1):c.*3798A>G rs1783908681
NM_032581.4(HYCC1):c.*3878C>T rs886062197
NM_032581.4(HYCC1):c.*435_*436delinsTG rs71527512
NM_032581.4(HYCC1):c.*506A>C rs1783988651
NM_032581.4(HYCC1):c.*646T>C rs1783986023
NM_032581.4(HYCC1):c.*940A>G rs1783979078
NM_032581.4(HYCC1):c.-202C>T rs17150413
NM_032581.4(HYCC1):c.-29+3G>C rs886062214
NM_032581.4(HYCC1):c.1088G>A (p.Gly363Asp)
NM_032581.4(HYCC1):c.1130T>C (p.Ile377Thr)
NM_032581.4(HYCC1):c.1132G>A (p.Gly378Arg)
NM_032581.4(HYCC1):c.1140C>A (p.Asn380Lys)
NM_032581.4(HYCC1):c.1143C>A (p.His381Gln)
NM_032581.4(HYCC1):c.1167T>C (p.Thr389=) rs886062210
NM_032581.4(HYCC1):c.1178A>G (p.Glu393Gly)
NM_032581.4(HYCC1):c.1192G>A (p.Gly398Arg)
NM_032581.4(HYCC1):c.1238C>T (p.Ala413Val) rs1216886022
NM_032581.4(HYCC1):c.1259T>G (p.Leu420Arg)
NM_032581.4(HYCC1):c.1313G>A (p.Ser438Asn)
NM_032581.4(HYCC1):c.133A>T (p.Ile45Phe)
NM_032581.4(HYCC1):c.1371C>A (p.Val457=)
NM_032581.4(HYCC1):c.1373G>A (p.Ser458Asn)
NM_032581.4(HYCC1):c.1408G>C (p.Val470Leu)
NM_032581.4(HYCC1):c.1506G>A (p.Met502Ile)
NM_032581.4(HYCC1):c.1515A>C (p.Gln505His) rs373948210
NM_032581.4(HYCC1):c.1532C>T (p.Pro511Leu)
NM_032581.4(HYCC1):c.1561G>A (p.Asp521Asn) rs2128195030
NM_032581.4(HYCC1):c.176A>G (p.Gln59Arg) rs2128204605
NM_032581.4(HYCC1):c.194G>A (p.Arg65His)
NM_032581.4(HYCC1):c.22G>A (p.Val8Ile)
NM_032581.4(HYCC1):c.269C>T (p.Ser90Leu)
NM_032581.4(HYCC1):c.286C>T (p.His96Tyr)
NM_032581.4(HYCC1):c.301A>G (p.Ile101Val)
NM_032581.4(HYCC1):c.377C>T (p.Thr126Met)
NM_032581.4(HYCC1):c.414+5G>C
NM_032581.4(HYCC1):c.461A>T (p.Gln154Leu) rs146695960
NM_032581.4(HYCC1):c.487A>G (p.Ser163Gly)
NM_032581.4(HYCC1):c.518C>G (p.Thr173Arg)
NM_032581.4(HYCC1):c.542T>C (p.Leu181Ser) rs767500992
NM_032581.4(HYCC1):c.598C>G (p.Leu200Val)
NM_032581.4(HYCC1):c.608T>C (p.Leu203Pro) rs1691610922
NM_032581.4(HYCC1):c.627-6T>G rs2128200626
NM_032581.4(HYCC1):c.641G>A (p.Gly214Glu)
NM_032581.4(HYCC1):c.649C>A (p.Arg217=) rs1784456045
NM_032581.4(HYCC1):c.717A>C (p.Gln239His)
NM_032581.4(HYCC1):c.831+4G>A
NM_032581.4(HYCC1):c.831+5G>A
NM_032581.4(HYCC1):c.831+6T>C rs1583534744
NM_032581.4(HYCC1):c.855A>G (p.Ser285=) rs886062211
NM_032581.4(HYCC1):c.863A>C (p.His288Pro) rs763251029
NM_032581.4(HYCC1):c.86C>A (p.Thr29Lys)
NM_032581.4(HYCC1):c.878C>T (p.Ser293Phe)
NM_032581.4(HYCC1):c.892A>C (p.Thr298Pro) rs758708291
NM_032581.4(HYCC1):c.896G>A (p.Arg299Lys)
NM_032581.4(HYCC1):c.930T>G (p.Ser310=) rs762598890

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