ClinVar Miner

List of variants reported as benign for Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571

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