ClinVar Miner

List of variants in gene TYMP reported as uncertain significance for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) rs367723039 0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) rs763471000 0.00003
NM_001953.5(TYMP):c.594A>G (p.Leu198=) rs753241194 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=) rs373478014 0.00001
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) rs1240133140
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) rs28931613
NM_001953.5(TYMP):c.135C>T (p.Asp45=) rs1035604323
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.402G>C (p.Ala134=) rs747718279
NM_001953.5(TYMP):c.418-7C>T rs2069479747
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-6C>G rs1323542953
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634

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