ClinVar Miner

List of variants studied for Bartter disease type 4B by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004070.4(CLCNKA):c.1929+31A>G rs10927893 0.91898
NM_000085.5(CLCNKB):c.*37A>C rs10803415 0.90411
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) rs2014562 0.88578
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) rs5253 0.88476
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) rs1889790 0.82868
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) rs7367494 0.82537
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=) rs7368151 0.82518
NM_000085.5(CLCNKB):c.866+35A>T rs59924562 0.82506
NM_000085.5(CLCNKB):c.867-32G>A rs7365182 0.82329
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_000085.5(CLCNKB):c.1930-40A>G rs7517792 0.76354
NM_004070.4(CLCNKA):c.1623-57T>C rs2015509 0.70166
NM_004070.4(CLCNKA):c.1846-6T>C rs10803407 0.70157
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) rs2275166 0.70089
NM_000085.5(CLCNKB):c.498+83C>G rs2863440 0.68735
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) rs5257 0.68719
NM_000085.5(CLCNKB):c.577-5C>T rs1889788 0.68517
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
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_000085.5(CLCNKB):c.101-50G>C rs6604910 0.53214
NM_000085.5(CLCNKB):c.1930-37T>A rs7512547 0.30011
NM_000085.5(CLCNKB):c.2017-16C>T rs61769892
NM_000085.5(CLCNKB):c.2017-28G>C rs12746138
NM_000085.5(CLCNKB):c.230-59G>A rs2014841
NM_000085.5(CLCNKB):c.359-70A>G rs945403
NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu) rs2015352
NM_000085.5(CLCNKB):c.866+47del rs34589727
NM_000085.5(CLCNKB):c.968+47T>C rs7368166
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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