ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Nilou-Genome Lab

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258

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