ClinVar Miner

List of variants in gene AHDC1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp) rs201595662 0.00004
NM_001371928.1(AHDC1):c.2750C>T (p.Ala917Val) rs199652856 0.00002
NM_001371928.1(AHDC1):c.1201C>T (p.Arg401Trp) rs1429232658 0.00001
NM_001371928.1(AHDC1):c.107G>A (p.Arg36Gln)
NM_001371928.1(AHDC1):c.1286C>T (p.Pro429Leu) rs759707632
NM_001371928.1(AHDC1):c.1291C>T (p.Pro431Ser)
NM_001371928.1(AHDC1):c.1325G>T (p.Gly442Val)
NM_001371928.1(AHDC1):c.1720G>C (p.Val574Leu)
NM_001371928.1(AHDC1):c.175G>A (p.Glu59Lys)
NM_001371928.1(AHDC1):c.1813G>A (p.Ala605Thr) rs2019464260
NM_001371928.1(AHDC1):c.2128G>A (p.Ala710Thr)
NM_001371928.1(AHDC1):c.2194G>A (p.Asp732Asn)
NM_001371928.1(AHDC1):c.2495G>A (p.Arg832His)
NM_001371928.1(AHDC1):c.260G>A (p.Arg87Gln)
NM_001371928.1(AHDC1):c.2851C>G (p.Pro951Ala) rs1235780679
NM_001371928.1(AHDC1):c.2866C>T (p.Arg956Cys)
NM_001371928.1(AHDC1):c.3617T>C (p.Met1206Thr)
NM_001371928.1(AHDC1):c.3664A>T (p.Ser1222Cys)
NM_001371928.1(AHDC1):c.3852G>T (p.Lys1284Asn)
NM_001371928.1(AHDC1):c.4732G>A (p.Gly1578Ser)
NM_001371928.1(AHDC1):c.498C>G (p.Ser166Arg)
NM_001371928.1(AHDC1):c.841C>G (p.Arg281Gly)
NM_001371928.1(AHDC1):c.851A>G (p.Asp284Gly)

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