ClinVar Miner

List of variants in gene combination COCH, LOC100506071 reported as benign by GeneDx

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.1478-220C>T rs4981082 0.93086
NM_004086.3(COCH):c.1478-226A>C rs2073205 0.64554
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_004086.3(COCH):c.436+246C>A rs7140258 0.37170
NM_004086.3(COCH):c.734-226A>T rs12881068 0.18699
NM_004086.3(COCH):c.240-308A>G rs2378812 0.18604
NM_004086.3(COCH):c.239+139C>T rs2239580 0.14915
NM_004086.3(COCH):c.239+78T>C rs2239581 0.13099
NM_004086.3(COCH):c.734-304T>G rs28362773 0.08063
NM_004086.3(COCH):c.437-188C>A rs2295127 0.07443
NM_004086.3(COCH):c.630-208A>C rs2295128 0.05899
NM_004086.3(COCH):c.436+185G>T rs7140538 0.05770
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_004086.3(COCH):c.240-239A>T rs143609554 0.04717
NM_004086.3(COCH):c.961-35C>T rs28362776 0.03008
NM_004086.3(COCH):c.629+83A>G rs73260346 0.02505
NM_004086.3(COCH):c.1478-201_1478-198dup rs28362785 0.02120
NM_004086.3(COCH):c.1478-177T>C rs61406161 0.01893
NM_004086.3(COCH):c.437-64A>G rs28400037 0.01844
NM_004086.3(COCH):c.733+53C>G rs28362771 0.01816
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004086.3(COCH):c.1167T>C (p.Phe389=) rs77370101 0.00462
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_004086.3(COCH):c.1477+18T>C rs28362779 0.00200
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00165
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00162
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004086.3(COCH):c.373+23T>C rs77118076 0.00024
NM_004086.3(COCH):c.1477+41dup rs28362780
NM_004086.3(COCH):c.239+80del rs111033189
NM_004086.3(COCH):c.629+38del rs10706771
NM_004086.3(COCH):c.83-212G>C rs1124181
NM_004086.3(COCH):c.83-268C>A rs2284654
NM_004086.3(COCH):c.83-298G>A rs77298564

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