ClinVar Miner

List of variants reported as uncertain significance for Holocarboxylase synthetase deficiency by Natera, Inc.

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ClinVar version:
Total variants: 17
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NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)

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