ClinVar Miner

List of variants reported for Autosomal recessive cutis laxa type 2B by Division of Biology and Genetics, University of Brescia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_006907.4(PYCR1):c.67+2T>A rs2041207320

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