ClinVar Miner

List of variants in gene LOC112533671, TSEN54 studied for central nervous system malformation

Included ClinVar conditions (163):
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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu) rs587784478 0.00001
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser) rs886053394
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln) rs1377971286

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