ClinVar Miner

List of variants reported as uncertain significance for obsolete rare genetic deafness

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_001384474.1(LOXHD1):c.610+2T>A
NM_016239.4(MYO15A):c.352G>A (p.Gly118Ser)
NM_017433.5(MYO3A):c.1359+1G>T rs756836048
NM_153700.2(STRC):c.3795G>A (p.Pro1265=)

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