ClinVar Miner

List of variants in gene combination C10orf105, CDH23 reported as uncertain significance for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) rs749105554 0.00004
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) rs747849852 0.00002
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) rs373622821 0.00001
NM_022124.6(CDH23):c.3685A>T (p.Ile1229Phe) rs775842667 0.00001
NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser) rs1283599592 0.00001
NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro) rs370383552 0.00001
NM_022124.6(CDH23):c.3232G>C (p.Val1078Leu) rs562859768
NM_022124.6(CDH23):c.3320A>C (p.Tyr1107Ser)
NM_022124.6(CDH23):c.3320A>G (p.Tyr1107Cys)
NM_022124.6(CDH23):c.3366G>T (p.Leu1122Phe) rs1866032612
NM_022124.6(CDH23):c.3419G>A (p.Arg1140His)
NM_022124.6(CDH23):c.3472C>T (p.Leu1158Phe)
NM_022124.6(CDH23):c.3520C>G (p.His1174Asp)
NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp)
NM_022124.6(CDH23):c.3633G>T (p.Gln1211His)
NM_022124.6(CDH23):c.3776A>T (p.Asp1259Val)
NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val)
NM_022124.6(CDH23):c.3881A>G (p.Gln1294Arg)
NM_022124.6(CDH23):c.3902T>A (p.Ile1301Asn) rs534333798
NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln) rs1007435841
NM_022124.6(CDH23):c.3937T>C (p.Phe1313Leu)
NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu)
NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser)
NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val)
NM_022124.6(CDH23):c.4079C>A (p.Ala1360Asp)
NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala)
NM_022124.6(CDH23):c.4133A>G (p.Asp1378Gly)
NM_022124.6(CDH23):c.4141A>G (p.Lys1381Glu)

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