ClinVar Miner

List of variants in gene CTSC reported as benign for periodontitis, aggressive 1

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.758-16T>A

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