ClinVar Miner

List of variants in gene ADCY5 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_183357.3(ADCY5):c.144C>T (p.Gly48=) rs4678027 0.98741
NM_183357.3(ADCY5):c.1647-17T>C rs9855969 0.85751
NM_183357.3(ADCY5):c.2900+4T>C rs4482616 0.79906
NM_183357.3(ADCY5):c.1805+13T>C rs9855635 0.27704
NM_183357.3(ADCY5):c.517C>T (p.Leu173=) rs774205173 0.00065
NM_183357.3(ADCY5):c.2122G>C (p.Glu708Gln) rs1210475987 0.00001
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306

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