ClinVar Miner

List of variants in gene combination CLCNKA, LOC106501712 reported as benign for Bartter disease type 4B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004070.4(CLCNKA):c.1929+31A>G rs10927893 0.91898
NM_004070.4(CLCNKA):c.1623-57T>C rs2015509 0.70166
NM_004070.4(CLCNKA):c.1846-6T>C rs10803407 0.70157
NM_004070.4(CLCNKA):c.782-36G>C rs10927889 0.61574
NM_004070.4(CLCNKA):c.1757-13C>G rs6669935 0.60387
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_004070.4(CLCNKA):c.867-8C>T rs200325856 0.00011
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr) rs1805152
NM_004070.4(CLCNKA):c.1408+13C>T rs3737218
NM_004070.4(CLCNKA):c.1929+30C>A rs10927892

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