ClinVar Miner

List of variants in gene MOCS2 studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_004531.5(MOCS2):c.*1011G>A
NM_004531.5(MOCS2):c.*1167G>A
NM_004531.5(MOCS2):c.*122G>A
NM_004531.5(MOCS2):c.*1284C>G
NM_004531.5(MOCS2):c.*1424G>A
NM_004531.5(MOCS2):c.*143G>A rs2233223
NM_004531.5(MOCS2):c.*1483C>T
NM_004531.5(MOCS2):c.*1544C>A
NM_004531.5(MOCS2):c.*1545G>A
NM_004531.5(MOCS2):c.*1658G>A
NM_004531.5(MOCS2):c.*1673T>C
NM_004531.5(MOCS2):c.*1918A>G
NM_004531.5(MOCS2):c.*2357T>C
NM_004531.5(MOCS2):c.*2609G>C
NM_004531.5(MOCS2):c.*2651G>T
NM_004531.5(MOCS2):c.*2672G>C
NM_004531.5(MOCS2):c.*2675A>C
NM_004531.5(MOCS2):c.*2877G>T
NM_004531.5(MOCS2):c.*2900A>G
NM_004531.5(MOCS2):c.*32C>G
NM_004531.5(MOCS2):c.*344C>T
NM_004531.5(MOCS2):c.*372G>A rs753919594
NM_004531.5(MOCS2):c.*518C>T
NM_004531.5(MOCS2):c.*532G>A rs886060695
NM_004531.5(MOCS2):c.*566C>T
NM_004531.5(MOCS2):c.*651G>A
NM_004531.5(MOCS2):c.*673A>T
NM_004531.5(MOCS2):c.*722T>C
NM_004531.5(MOCS2):c.*735G>A
NM_004531.5(MOCS2):c.*837T>C
NM_004531.5(MOCS2):c.*876T>C
NM_004531.5(MOCS2):c.-10C>T rs146074751
NM_004531.5(MOCS2):c.-169G>T rs121908608
NM_004531.5(MOCS2):c.-54A>C rs1561177917
NM_004531.5(MOCS2):c.-622G>A rs373522800
NM_004531.5(MOCS2):c.-630G>T
NM_004531.5(MOCS2):c.-633C>T rs121908607
NM_004531.5(MOCS2):c.-635G>A rs572637154
NM_004531.5(MOCS2):c.-642C>T rs886060696
NM_004531.5(MOCS2):c.-646G>A rs1273139451
NM_004531.5(MOCS2):c.-656_-634del rs397518417
NM_004531.5(MOCS2):c.-664C>A rs764809636
NM_004531.5(MOCS2):c.-71G>A rs773035025
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) rs140563222
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216
NM_004531.5(MOCS2):c.261C>T (p.Val87=) rs777565219
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val) rs2233217
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) rs772575104
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218
NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) rs121908606
NM_004531.5(MOCS2):c.415G>A (p.Val139Met) rs199581021
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) rs121908605
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) rs121908609
NM_004531.5(MOCS2):c.65dup (p.Leu23fs) rs398122799
NM_004531.5(MOCS2):c.99-8_99-5del rs779872271
NM_176806.3(MOCS2):c.-37T>C rs757181179

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