ClinVar Miner

List of variants in gene A2ML1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
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.2189G>A (p.Arg730His) rs200346409
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2713-8C>A rs184386564
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.971-8C>T rs780868782

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