ClinVar Miner

List of variants reported by Inserm U 954, Faculté de Médecine de Nancy

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000783.4(CYP26A1):c.905A>G (p.His302Arg) rs777202473 0.00006
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000277.3(PAH):c.970-1G>A rs202183605 0.00001
NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter) rs561240556 0.00001
NM_001330311.2(DVL1):c.1507+1_1508-1del rs1553173467 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000168.6(GLI3):c.1812+3A>T rs796064500
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu) rs796064501
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1163T>C (p.Val388Ala) rs281865435
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) rs62516142
NM_000277.3(PAH):c.1196T>C (p.Val399Ala) rs281865436
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) rs281865433
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.60+5G>A rs62514895
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.836C>T (p.Pro279Leu) rs796064503
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.841C>G (p.Pro281Ala) rs199475654
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) rs796064507
NM_001713.3(BHMT):c.1200del (p.Lys400fs) rs763726268
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del) rs770530971
NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg) rs796064510
NM_005957.5(MTHFR):c.1606G>A (p.Val536Ile) rs786204028
NM_005957.5(MTHFR):c.1611T>A (p.Asn537Lys) rs796064511
NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu) rs796064512
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514

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