ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 12 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740

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