ClinVar Miner

List of variants in gene TYMP reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.646+1G>A rs760629248 0.00002
NM_001953.5(TYMP):c.358G>A (p.Gly120Ser) rs863224250 0.00001
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)
NM_001953.5(TYMP):c.418-1G>A
NM_001953.5(TYMP):c.476A>T (p.Glu159Val) rs863224251
NM_001953.5(TYMP):c.516+1G>C rs778803158
NM_001953.5(TYMP):c.516+1G>T
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>C (p.Val208Ala)
NM_001953.5(TYMP):c.646+2T>C
NM_001953.5(TYMP):c.766-1G>A
NM_001953.5(TYMP):c.766-1G>C
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.854T>G (p.Leu285Arg)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872

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