ClinVar Miner

List of variants studied for sulfur metabolism disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_000108.5(DLD):c.337+4_337+7del
NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)

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