ClinVar Miner

List of variants reported as pathogenic by Medical Molecular Genetics Department, National Research Center

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) rs140568136 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) rs1433117170
NM_000380.4(XPA):c.374del (p.Thr125fs) rs1828818571
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter) rs2082644196
NM_000487.6(ARSA):c.685-1G>A rs2082676596
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter) rs751026400
NM_000487.6(ARSA):c.956_958del (p.Phe319del) rs2082663514
NM_000541.5(SAG):c.648+1G>C rs1700648887
NM_000541.5(SAG):c.649-1G>C rs929766806
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del) rs2067017409
NM_001042492.3(NF1):c.2325+1G>T rs1555613933
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs) rs2067137617
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu) rs2067142728
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs) rs2069329829
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs) rs2069743612
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) rs1557135039
NM_001110792.2(MECP2):c.650_651del (p.Glu217fs) rs1603309190
NM_001110792.2(MECP2):c.860_861del (p.Val287fs) rs1557136374
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) rs1603307859
NM_001110792.2(MECP2):c.95del (p.Gly32fs) rs1603310910
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) rs1768581035
NM_001399.5(EDA):c.492del (p.Gly165fs) rs2019019815
NM_001399.5(EDA):c.602G>A (p.Gly201Glu) rs2147509771
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.628G>A (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.707-2A>T rs2147511696
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs) rs1597357740
NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter) rs1597355244
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter) rs3731139
NM_004628.5(XPC):c.2127del (p.Ser711fs) rs1695569595
NM_004628.5(XPC):c.395_398del (p.Asp132fs) rs1696563531
NM_004628.5(XPC):c.524_525dup (p.Arg176fs) rs1696466639
NM_004628.5(XPC):c.669_670del (p.Ile223fs) rs1696343406
NM_016277.5(RAB23):c.398+1G>A rs2127998616
NM_017839.5(LPCAT2):c.172-6188G>A rs1567390809
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.158_160del (p.Gly53del) rs2106102271
NM_020919.4(ALS2):c.2417+1G>C rs1275973309
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.2713-2A>C rs2106011709
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu) rs2106089689
NM_020919.4(ALS2):c.3517delG rs1317051984
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_022336.4(EDAR):c.204del (p.Tyr69fs) rs1697322263
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter) rs1653335301
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576

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