ClinVar Miner

List of variants reported as likely benign for Hypomyelination and Congenital Cataract

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_032581.4(HYCC1):c.*3106G>A rs191973703 0.00409
NM_032581.4(HYCC1):c.*372G>C rs192651934 0.00366
NM_032581.4(HYCC1):c.*3753C>T rs186672766 0.00319
NM_032581.4(HYCC1):c.*583A>G rs531843289 0.00307
NM_032581.4(HYCC1):c.*2198A>G rs186923912 0.00242
NM_032581.4(HYCC1):c.1064C>T (p.Ala355Val) rs115568145 0.00207
NM_032581.4(HYCC1):c.991+11C>T rs141187440 0.00176
NM_032581.4(HYCC1):c.1415G>A (p.Cys472Tyr) rs140356119 0.00101
NM_032581.4(HYCC1):c.963A>G (p.Ser321=) rs143738495 0.00031
NM_032581.4(HYCC1):c.*798C>G rs145859643 0.00029
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.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.483A>G (p.Val161=) rs143133805 0.00007
NM_032581.4(HYCC1):c.*4221G>C rs539079827 0.00006
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.1044C>T (p.Asp348=) rs768075744 0.00004
NM_032581.4(HYCC1):c.52-9T>A rs753846865 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.378G>A (p.Thr126=) rs766096775 0.00003
NM_032581.4(HYCC1):c.1335C>T (p.Thr445=) rs776382371 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.627-10G>T rs762702246 0.00002
NM_032581.4(HYCC1):c.1137G>A (p.Lys379=) rs1410960211 0.00001
NM_032581.4(HYCC1):c.1221A>G (p.Arg407=) rs370926322 0.00001
NM_032581.4(HYCC1):c.1437T>C (p.Asn479=) rs749295707 0.00001
NM_032581.4(HYCC1):c.168C>G (p.Val56=) rs1355887541 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
NM_032581.4(HYCC1):c.*2379AT[1] rs143367578
NM_032581.4(HYCC1):c.-186_-183del rs201235833
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.1113T>C (p.Cys371=) rs1784018191
NM_032581.4(HYCC1):c.1176A>G (p.Lys392=) rs1784015740
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.1341G>A (p.Ala447=) rs772547312
NM_032581.4(HYCC1):c.1347A>T (p.Val449=)
NM_032581.4(HYCC1):c.1398G>A (p.Pro466=)
NM_032581.4(HYCC1):c.1401A>T (p.Ser467=) rs765294718
NM_032581.4(HYCC1):c.1413T>C (p.Gly471=)
NM_032581.4(HYCC1):c.1419G>T (p.Gly473=)
NM_032581.4(HYCC1):c.1524G>A (p.Gln508=) rs368973217
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.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.384A>G (p.Pro128=)
NM_032581.4(HYCC1):c.396A>G (p.Lys132=)
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.52-17T>C rs2128205655
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.549C>T (p.Phe183=) rs2128204181
NM_032581.4(HYCC1):c.615A>G (p.Gln205=)
NM_032581.4(HYCC1):c.778C>T (p.Leu260=)
NM_032581.4(HYCC1):c.786T>C (p.Asp262=)
NM_032581.4(HYCC1):c.832-13T>C
NM_032581.4(HYCC1):c.832-18T>G
NM_032581.4(HYCC1):c.858G>A (p.Leu286=)
NM_032581.4(HYCC1):c.930T>G (p.Ser310=) rs762598890
NM_032581.4(HYCC1):c.967A>C (p.Arg323=)
NM_032581.4(HYCC1):c.991+13T>C rs979354764
NM_032581.4(HYCC1):c.992-6G>T

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