ClinVar Miner

List of variants reported as not provided by Inserm U 954, Faculté de Médecine de Nancy

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Total variants: 23
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HGVS dbSNP
NM_000071.2(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000168.6(GLI3):c.1812+3A>T rs796064500
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000783.4(CYP26A1):c.905A>G (p.His302Arg) rs777202473
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) rs796064507
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_001330311.2(DVL1):c.1507+1_1508-1del rs1553173467
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.432_434GAA[1] (p.Lys145del) rs770530971
NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg) rs796064510
NM_005957.4(MTHFR):c.1606G>A (p.Val536Ile) rs786204028
NM_005957.4(MTHFR):c.1611T>A (p.Asn537Lys) rs796064511
NM_005957.4(MTHFR):c.197C>T (p.Pro66Leu) rs796064512
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) rs770077320
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514

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