ClinVar Miner

List of variants reported as uncertain significance for Holocarboxylase synthetase deficiency by Invitae

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ClinVar version:
Total variants: 39
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HGVS dbSNP
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
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.2450+1_2450+2del
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)

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