ClinVar Miner

List of variants in gene KL reported as benign for calcinosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.2619T>C (p.Asn873=) rs649964 0.97241
NM_004795.4(KL):c.273T>C (p.Asp91=) rs2772364 0.94529
NM_004795.4(KL):c.2701+22T>A rs650439 0.81086
NM_004795.4(KL):c.2247T>C (p.Ala749=) rs648202 0.76534
NM_004795.4(KL):c.1767C>T (p.His589=) rs564481 0.30857
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) rs9527025 0.15805
NM_004795.4(KL):c.1155G>A (p.Lys385=) rs9527026 0.15795
NM_004795.4(KL):c.1054T>G (p.Phe352Val) rs9536314 0.15781
NM_004795.4(KL):c.*1286A>G rs41292181 0.02431
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) rs3752472 0.01461
NM_004795.4(KL):c.*543G>A rs116819287 0.01299
NM_004795.4(KL):c.1407T>C (p.Gly469=) rs138916294 0.01262
NM_004795.4(KL):c.140G>A (p.Arg47Gln) rs201936594 0.01179
NM_004795.4(KL):c.*1619T>C rs114924800 0.00745
NM_004795.4(KL):c.326T>G (p.Leu109Arg) rs35239775 0.00735
NM_004795.4(KL):c.320C>T (p.Ala107Val) rs115511178 0.00702
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00696
NM_004795.4(KL):c.607G>T (p.Ala203Ser) rs116289670 0.00657
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys) rs35328951 0.00553
NM_004795.4(KL):c.393C>A (p.Asn131Lys) rs79554512 0.00458
NM_004795.4(KL):c.327G>C (p.Leu109=) rs116810451 0.00457
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00421
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_004795.4(KL):c.2702-59dup rs34137141

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