ClinVar Miner

List of variants in gene A2ML1 reported as uncertain significance for Otitis media, susceptibility to

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 0.00216
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) rs762406949 0.00012
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu) rs376707182 0.00010
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe) rs375843284 0.00010
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) rs200346409 0.00009
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.971-8C>T rs780868782 0.00006
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys) rs753349449 0.00002
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888 0.00002
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu) rs780461710 0.00002
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu) rs200447138 0.00001
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) rs780743143
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) rs1565476223
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) rs1465018225
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val) rs2136894252
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp) rs199701571
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941

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