ClinVar Miner

List of variants in gene combination CLCNKA, LOC106501712 reported by Athena Diagnostics Inc

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004070.4(CLCNKA):c.1846-6T>C rs10803407 0.70157
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_004070.4(CLCNKA):c.1161T>G (p.Leu387=) rs58150371 0.01281
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740 0.00922
NM_004070.4(CLCNKA):c.486C>T (p.Phe162=) rs115351575 0.00611
NM_004070.4(CLCNKA):c.1086C>T (p.Phe362=) rs146831535 0.00482
NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=) rs143253425 0.00190
NM_004070.4(CLCNKA):c.1939C>T (p.Leu647Phe) rs528421254 0.00005
NM_004070.4(CLCNKA):c.868G>T (p.Gly290Cys) rs1486642291 0.00003
NM_004070.4(CLCNKA):c.1177C>T (p.His393Tyr) rs1553124800
NM_004070.4(CLCNKA):c.1227+10del rs58210748
NM_004070.4(CLCNKA):c.1436C>T (p.Thr479Ile) rs1553125021
NM_004070.4(CLCNKA):c.1500C>T (p.Pro500=) rs143389794

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