ClinVar Miner

List of variants in gene CTSA, LOC130065974 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.54del (p.Leu18_Leu19insTer) rs530287837 0.00093
NM_000308.4(CTSA):c.60del (p.Ser21fs) rs750928198 0.00003
NM_000308.4(CTSA):c.55_57del (p.Leu19del) rs544157818 0.00002
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893 0.00001
NM_000308.4(CTSA):c.60G>A (p.Val20=) rs1003805541 0.00001
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln) rs746200419 0.00001
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_000308.4(CTSA):c.54G>T (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.57A>G (p.Leu19=) rs2515431967
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr) rs1986939703
NM_000308.4(CTSA):c.69G>T (p.Ala23=) rs2515432025
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn) rs961795659
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter) rs2515432127
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn) rs2145813484

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