ClinVar Miner

List of variants reported as benign for Familial hypokalemia-hypomagnesemia by Genome-Nilou Lab

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001126108.2(SLC12A3):c.2634-127T>C rs9922270 0.96546
NM_001126108.2(SLC12A3):c.*205A>G rs5805 0.63172
NM_001126108.2(SLC12A3):c.1670-8T>C rs2304483 0.48985
NM_001126108.2(SLC12A3):c.2924+13C>T rs2289115 0.34518
NM_001126108.2(SLC12A3):c.2634-222A>G rs12448372 0.25380
NM_001126108.2(SLC12A3):c.2721-13T>C rs34772420 0.18153
NM_001126108.2(SLC12A3):c.2856+143A>G rs16963520 0.17855
NM_001126108.2(SLC12A3):c.1336-35C>T rs3816119 0.17459
NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=) rs5801 0.15318
NM_001126108.2(SLC12A3):c.2857-17G>A rs2289116 0.13711
NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=) rs5803 0.11388
NM_001126108.2(SLC12A3):c.2179-8C>T rs13306676 0.11191
NM_001126108.2(SLC12A3):c.1926-172G>A rs12444694 0.10747
NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=) rs5804 0.09125
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=) rs5802 0.08069
NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=) rs2304479 0.05592
NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=) rs2229209 0.04172
NM_001126108.2(SLC12A3):c.1825+9C>A rs35797045 0.03711
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763 0.01422
NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=) rs2289113 0.01151
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=) rs35082264 0.00802
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00597
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) rs150358489 0.00196
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544 0.00003
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.2420-37T>C rs2278489

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