ClinVar Miner

List of variants studied for Tumoral calcinosis, hyperphosphatemic, familial, 3 by Genome-Nilou Lab

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Total variants: 8
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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 0.94886
NM_004795.4(KL):c.2701+22T>A rs650439 0.81086
NM_004795.4(KL):c.2247T>C (p.Ala749=) rs648202 0.76595
NM_004795.4(KL):c.1767C>T (p.His589=) rs564481 0.30857
NM_004795.4(KL):c.1155G>A (p.Lys385=) rs9527026 0.15795
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) rs9527025 0.15638
NM_004795.4(KL):c.1054T>G (p.Phe352Val) rs9536314 0.15619

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