ClinVar Miner

List of variants in gene ATP2B2 studied for auditory system disorder

Included ClinVar conditions (325):
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001001331.4(ATP2B2):c.10A>G (p.Met4Val) rs1473080344 0.00001
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) rs2061464108
NM_001001331.4(ATP2B2):c.1046A>G (p.Lys349Arg)
NM_001001331.4(ATP2B2):c.1963G>T (p.Glu655Ter) rs267599520
NM_001001331.4(ATP2B2):c.1998C>A (p.Cys666Ter) rs752990722
NM_001001331.4(ATP2B2):c.2329C>T (p.Arg777Ter) rs2060537889
NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)
NM_001001331.4(ATP2B2):c.727G>A (p.Gly243Arg)
NM_001001331.4(ATP2B2):c.919G>A (p.Gly307Arg)
NM_001001331.4(ATP2B2):c.941-1G>A
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
NM_001001331.4(ATP2B2):c.955del (p.Ala319fs) rs2124844270

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