ClinVar Miner

List of variants in gene SERPINB6 studied for autosomal recessive nonsyndromic hearing loss 91

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004568.6(SERPINB6):c.431-25T>C rs3818276 0.85550
NM_004568.6(SERPINB6):c.730-32G>A rs318426 0.84542
NM_004568.6(SERPINB6):c.573+26A>G rs2244693 0.63676
NM_004568.6(SERPINB6):c.54G>A (p.Thr18=) rs2236277 0.28827
NM_004568.6(SERPINB6):c.268A>G (p.Met90Val) rs2295769 0.22197
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg) rs765798757 0.00007
NM_004568.6(SERPINB6):c.203T>C (p.Ile68Thr)
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) rs1225963332
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter) rs267607037

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