ClinVar Miner

List of variants studied for Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive by Fulgent Genetics, Fulgent Genetics

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1147-1G>A
NM_002454.3(MTRR):c.1164del (p.Val389fs)
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
NM_002454.3(MTRR):c.226del (p.Ile76fs)
NM_002454.3(MTRR):c.339del (p.Lys113fs)
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
NM_002454.3(MTRR):c.593del (p.Asp198fs)
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)

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