ClinVar Miner

List of variants in gene AHDC1 reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) rs1571236369
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) rs1571224398

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