ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000783.4(CYP26A1):c.905A>G (p.His302Arg) rs777202473 0.00006
NM_001330311.2(DVL1):c.1507+1_1508-1del rs1553173467 0.00001
NM_000168.6(GLI3):c.1812+3A>T rs796064500
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) rs796064507
NM_001713.3(BHMT):c.1200del (p.Lys400fs) rs763726268
NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg) rs796064510

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