ClinVar Miner

List of variants in gene SLC12A5 reported as benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=) rs6032635 0.98449
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=) rs3746522 0.16926
NM_020708.5(SLC12A5):c.280-45C>T rs3746515 0.11932
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=) rs17344810 0.09686
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=) rs77659338 0.06862
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=) rs41282782 0.05088
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala) rs16985442 0.04777
NM_020708.5(SLC12A5):c.482-19T>C rs77623489 0.04769
NM_020708.5(SLC12A5):c.2012+3T>A rs12481488 0.03011
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) rs3848724 0.02859
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) rs3746519 0.02856
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) rs35804246 0.02850
NM_020708.5(SLC12A5):c.2100= (p.Ala700=) rs6032635 0.01551
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=) rs79522550 0.01094
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=) rs35981087 0.00442
NM_020708.5(SLC12A5):c.1569+13G>A rs75931039 0.00297
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=) rs151293924 0.00186
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=) rs538711126 0.00054
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) rs41282784 0.00044
NM_020708.5(SLC12A5):c.2547+14G>A rs368044730 0.00021
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=) rs3746521 0.00018
NM_020708.5(SLC12A5):c.1926C>T (p.Gly642=) rs748908890 0.00009
NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=) rs190924143 0.00006
NM_020708.5(SLC12A5):c.52+19del rs1462751577
NM_020708.5(SLC12A5):c.52+21_52+35del rs141158582

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