ClinVar Miner

List of variants studied for perceptual disorders by GenePathDx, GenePath diagnostics

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073

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