ClinVar Miner

List of variants in gene SLC12A5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) rs41282784 0.00044
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) rs145700012 0.00035
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=) rs373648545 0.00029
NM_020708.5(SLC12A5):c.936G>A (p.Thr312=) rs150595305 0.00026
NM_020708.5(SLC12A5):c.942C>T (p.Thr314=) rs143072268 0.00026
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020708.5(SLC12A5):c.2499C>T (p.His833=) rs371925559 0.00011
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=) rs540937956 0.00010
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) rs764791575 0.00002
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.1740G>A (p.Thr580=) rs200135706 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020708.5(SLC12A5):c.3110+4C>T rs781152138 0.00001
NM_001134771.2(SLC12A5):c.121+1058GGA[16]
NM_020708.5(SLC12A5):c.*1031G>A rs2084720068
NM_020708.5(SLC12A5):c.*1040C>T
NM_020708.5(SLC12A5):c.*2010G>C rs150067894
NM_020708.5(SLC12A5):c.*989G>A
NM_020708.5(SLC12A5):c.1497G>A (p.Gly499=) rs1471957997
NM_020708.5(SLC12A5):c.1611C>T (p.Ala537=)
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=) rs140595322
NM_020708.5(SLC12A5):c.1836C>T (p.Ile612=)
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) rs1555866427
NM_020708.5(SLC12A5):c.2258G>C (p.Gly753Ala)
NM_020708.5(SLC12A5):c.2265C>A (p.Ser755=)
NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)
NM_020708.5(SLC12A5):c.3159C>T (p.Ala1053=)

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