ClinVar Miner

List of variants in gene TSPEAR reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 98

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_144991.3(TSPEAR):c.533C>T (p.Pro178Leu) rs782685093 0.00010
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) rs138031432

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