ClinVar Miner

List of variants studied for Hypomyelination and Congenital Cataract by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_032581.4(HYCC1):c.624A>G (p.Ser208=) rs3735231 0.35143
NM_032581.4(HYCC1):c.414+19C>T rs11972002 0.04914
NM_032581.4(HYCC1):c.992-11T>G rs115772574 0.00688
NM_032581.4(HYCC1):c.743+20C>T rs141076998 0.00576
NM_032581.4(HYCC1):c.1555T>C (p.Ser519Pro) rs76265662 0.00527
NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala) rs143894913 0.00421
NM_032581.4(HYCC1):c.1064C>T (p.Ala355Val) rs115568145 0.00207
NM_032581.4(HYCC1):c.636T>C (p.Val212=) rs139293438 0.00183
NM_032581.4(HYCC1):c.991+11C>T rs141187440 0.00176
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys) rs146913158 0.00105
NM_032581.4(HYCC1):c.1415G>A (p.Cys472Tyr) rs140356119 0.00101
NM_032581.4(HYCC1):c.834T>G (p.Val278=) rs150739070 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.1480G>A (p.Val494Ile) rs151228394 0.00049
NM_032581.4(HYCC1):c.262G>T (p.Ala88Ser) rs138296939 0.00043
NM_032581.4(HYCC1):c.650G>A (p.Arg217Gln) rs192409840 0.00034
NM_032581.4(HYCC1):c.963A>G (p.Ser321=) rs143738495 0.00031
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.530+12G>A rs139158847 0.00019
NM_032581.4(HYCC1):c.1171G>C (p.Gly391Arg) rs146591904 0.00018
NM_032581.4(HYCC1):c.1201T>C (p.Cys401Arg) rs563938932 0.00017
NM_032581.4(HYCC1):c.1519G>C (p.Gly507Arg) rs140544023 0.00015
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=) rs373948210 0.00013
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.1220G>A (p.Arg407Gln) rs753315808 0.00011
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg) rs370072584 0.00011
NM_032581.4(HYCC1):c.1339G>A (p.Ala447Thr) rs117545587 0.00009
NM_032581.4(HYCC1):c.27G>A (p.Val9=) rs139314533 0.00009
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.416C>T (p.Pro139Leu) rs140154050 0.00008
NM_032581.4(HYCC1):c.461A>G (p.Gln154Arg) rs146695960 0.00008
NM_032581.4(HYCC1):c.483A>G (p.Val161=) rs143133805 0.00007
NM_032581.4(HYCC1):c.932G>A (p.Arg311Gln) rs148168726 0.00007
NM_032581.4(HYCC1):c.334-20A>G rs201791021 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.1044C>T (p.Asp348=) rs768075744 0.00004
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter) rs780540757 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.52-9T>A rs753846865 0.00004
NM_032581.4(HYCC1):c.775G>A (p.Ala259Thr) rs1031404624 0.00004
NM_032581.4(HYCC1):c.826T>C (p.Leu276=) rs201039474 0.00004
NM_032581.4(HYCC1):c.1446C>T (p.Ser482=) rs780099618 0.00003
NM_032581.4(HYCC1):c.1479C>T (p.Tyr493=) rs759045816 0.00003
NM_032581.4(HYCC1):c.378G>A (p.Thr126=) rs766096775 0.00003
NM_032581.4(HYCC1):c.1291A>G (p.Ser431Gly) rs1289064810 0.00002
NM_032581.4(HYCC1):c.1335C>T (p.Thr445=) rs776382371 0.00002
NM_032581.4(HYCC1):c.1340C>T (p.Ala447Val) rs777996428 0.00002
NM_032581.4(HYCC1):c.321G>C (p.Gly107=) rs150320322 0.00002
NM_032581.4(HYCC1):c.52-13T>A rs747711017 0.00002
NM_032581.4(HYCC1):c.594T>A (p.Val198=) rs1041183971 0.00002
NM_032581.4(HYCC1):c.626+5A>G rs778280191 0.00002
NM_032581.4(HYCC1):c.627-10G>T rs762702246 0.00002
NM_032581.4(HYCC1):c.733T>A (p.Tyr245Asn) rs377444390 0.00002
NM_032581.4(HYCC1):c.831+1G>T rs139065525 0.00002
NM_032581.4(HYCC1):c.1076C>T (p.Thr359Ile) rs1430992002 0.00001
NM_032581.4(HYCC1):c.1137G>A (p.Lys379=) rs1410960211 0.00001
NM_032581.4(HYCC1):c.1184A>G (p.Glu395Gly) rs972215357 0.00001
NM_032581.4(HYCC1):c.1221A>G (p.Arg407=) rs370926322 0.00001
NM_032581.4(HYCC1):c.1423G>A (p.Gly475Arg) rs1222195168 0.00001
NM_032581.4(HYCC1):c.1437T>C (p.Asn479=) rs749295707 0.00001
NM_032581.4(HYCC1):c.1504A>G (p.Met502Val) rs765967900 0.00001
NM_032581.4(HYCC1):c.168C>G (p.Val56=) rs1355887541 0.00001
NM_032581.4(HYCC1):c.432C>G (p.Ser144=) rs753378227 0.00001
NM_032581.4(HYCC1):c.443C>T (p.Thr148Ile) rs1784748343 0.00001
NM_032581.4(HYCC1):c.744-7T>G rs534292900 0.00001
NM_032581.4(HYCC1):c.948A>G (p.Ala316=) rs541311608 0.00001
NM_032581.4(HYCC1):c.99C>T (p.Asp33=) rs746365802 0.00001
NC_000007.13:g.(?_20994491)_(23030730_?)del
NC_000007.14:g.(?_22964395)_(22991131_?)del
NM_032581.4(HYCC1):c.1029G>A (p.Glu343=) rs2128195217
NM_032581.4(HYCC1):c.1083G>A (p.Gln361=)
NM_032581.4(HYCC1):c.1086G>A (p.Ser362=) rs771923181
NM_032581.4(HYCC1):c.1086G>C (p.Ser362=) rs771923181
NM_032581.4(HYCC1):c.1088G>A (p.Gly363Asp)
NM_032581.4(HYCC1):c.1113T>C (p.Cys371=) rs1784018191
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.1176A>G (p.Lys392=) rs1784015740
NM_032581.4(HYCC1):c.1178A>G (p.Glu393Gly)
NM_032581.4(HYCC1):c.1192G>A (p.Gly398Arg)
NM_032581.4(HYCC1):c.1259T>G (p.Leu420Arg)
NM_032581.4(HYCC1):c.1267T>C (p.Leu423=)
NM_032581.4(HYCC1):c.1302A>T (p.Leu434=)
NM_032581.4(HYCC1):c.1308G>A (p.Lys436=)
NM_032581.4(HYCC1):c.1313G>A (p.Ser438Asn)
NM_032581.4(HYCC1):c.133A>T (p.Ile45Phe)
NM_032581.4(HYCC1):c.1341G>A (p.Ala447=) rs772547312
NM_032581.4(HYCC1):c.1347A>T (p.Val449=)
NM_032581.4(HYCC1):c.1371C>A (p.Val457=)
NM_032581.4(HYCC1):c.1373G>A (p.Ser458Asn)
NM_032581.4(HYCC1):c.1398G>A (p.Pro466=)
NM_032581.4(HYCC1):c.1401A>T (p.Ser467=) rs765294718
NM_032581.4(HYCC1):c.1408G>C (p.Val470Leu)
NM_032581.4(HYCC1):c.1413T>C (p.Gly471=)
NM_032581.4(HYCC1):c.1419G>T (p.Gly473=)
NM_032581.4(HYCC1):c.1506G>A (p.Met502Ile)
NM_032581.4(HYCC1):c.1515A>C (p.Gln505His) rs373948210
NM_032581.4(HYCC1):c.1524G>A (p.Gln508=) rs368973217
NM_032581.4(HYCC1):c.1532C>T (p.Pro511Leu)
NM_032581.4(HYCC1):c.154-1G>T
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.198T>C (p.Ser66=)
NM_032581.4(HYCC1):c.201A>G (p.Gly67=)
NM_032581.4(HYCC1):c.21G>C (p.Gly7=)
NM_032581.4(HYCC1):c.225G>A (p.Thr75=)
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.318A>C (p.Leu106=)
NM_032581.4(HYCC1):c.333+11A>C rs2128204561
NM_032581.4(HYCC1):c.333+15G>A
NM_032581.4(HYCC1):c.334-3dup
NM_032581.4(HYCC1):c.377C>T (p.Thr126Met)
NM_032581.4(HYCC1):c.384A>G (p.Pro128=)
NM_032581.4(HYCC1):c.396A>G (p.Lys132=)
NM_032581.4(HYCC1):c.414+1G>A rs72549406
NM_032581.4(HYCC1):c.414+5G>C
NM_032581.4(HYCC1):c.453A>C (p.Ala151=)
NM_032581.4(HYCC1):c.453A>T (p.Ala151=)
NM_032581.4(HYCC1):c.471G>A (p.Leu157=)
NM_032581.4(HYCC1):c.487A>G (p.Ser163Gly)
NM_032581.4(HYCC1):c.518C>G (p.Thr173Arg)
NM_032581.4(HYCC1):c.52-11A>C
NM_032581.4(HYCC1):c.52-17T>C rs2128205655
NM_032581.4(HYCC1):c.52-20A>T
NM_032581.4(HYCC1):c.52-4T>A
NM_032581.4(HYCC1):c.52-4T>G rs199555288
NM_032581.4(HYCC1):c.522A>G (p.Ala174=)
NM_032581.4(HYCC1):c.531-16T>G
NM_032581.4(HYCC1):c.542T>C (p.Leu181Ser) rs767500992
NM_032581.4(HYCC1):c.549C>T (p.Phe183=) rs2128204181
NM_032581.4(HYCC1):c.597T>A (p.Ser199=)
NM_032581.4(HYCC1):c.598C>G (p.Leu200Val)
NM_032581.4(HYCC1):c.608T>C (p.Leu203Pro) rs1691610922
NM_032581.4(HYCC1):c.615A>G (p.Gln205=)
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.649C>T (p.Arg217Ter) rs1784456045
NM_032581.4(HYCC1):c.717A>C (p.Gln239His)
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter) rs2128200575
NM_032581.4(HYCC1):c.778C>T (p.Leu260=)
NM_032581.4(HYCC1):c.781del (p.Asp261fs)
NM_032581.4(HYCC1):c.786T>C (p.Asp262=)
NM_032581.4(HYCC1):c.801C>A (p.Ala267=)
NM_032581.4(HYCC1):c.831+14T>G
NM_032581.4(HYCC1):c.831+4G>A
NM_032581.4(HYCC1):c.831+5G>A
NM_032581.4(HYCC1):c.832-13T>C
NM_032581.4(HYCC1):c.832-14dup rs1554269900
NM_032581.4(HYCC1):c.832-18T>G
NM_032581.4(HYCC1):c.858G>A (p.Leu286=)
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
NM_032581.4(HYCC1):c.967A>C (p.Arg323=)
NM_032581.4(HYCC1):c.975T>C (p.His325=)
NM_032581.4(HYCC1):c.991+13T>C rs979354764
NM_032581.4(HYCC1):c.992-6G>T

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