ClinVar Miner

List of variants in gene SLC12A2 studied for Delpire-McNeill syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala) rs149585221 0.00499
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=) rs115357531 0.00153
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=) rs115092488 0.00098
NM_001046.3(SLC12A2):c.876+17_876+18del rs556046317 0.00094
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=) rs141683516 0.00080
NM_001046.3(SLC12A2):c.2005+9T>C rs10463502 0.00071
NM_001046.3(SLC12A2):c.3100+13A>T rs199929591 0.00066
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=) rs138234695 0.00051
NM_001046.3(SLC12A2):c.953-7C>T rs201608609 0.00044
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=) rs190573592 0.00030
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=) rs138341229 0.00026
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=) rs1053614 0.00019
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=) rs371700719 0.00016
NM_001046.3(SLC12A2):c.1773+15T>C rs199958255 0.00012
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) rs367694835 0.00011
NM_001046.3(SLC12A2):c.877-16C>G rs530956302 0.00008
NM_001046.3(SLC12A2):c.3100+20T>A rs776147551 0.00003
NM_001046.3(SLC12A2):c.1226T>C (p.Ile409Thr) rs1485381198 0.00002
NM_001046.3(SLC12A2):c.2475+11A>G rs763550873 0.00002
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) rs376802988 0.00001
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) rs548545596 0.00001
NM_001046.3(SLC12A2):c.1076G>A (p.Ser359Asn)
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) rs116621105
NM_001046.3(SLC12A2):c.1127A>T (p.Asn376Ile) rs116621105
NM_001046.3(SLC12A2):c.1237G>A (p.Gly413Arg)
NM_001046.3(SLC12A2):c.1444C>G (p.Arg482Gly)
NM_001046.3(SLC12A2):c.1741C>T (p.Pro581Ser) rs758368968
NM_001046.3(SLC12A2):c.2069A>G (p.Asn690Ser)
NM_001046.3(SLC12A2):c.2107+11A>G rs189093520
NM_001046.3(SLC12A2):c.2476-1G>C
NM_001046.3(SLC12A2):c.2616+1547G>T rs2126736189
NM_001046.3(SLC12A2):c.2675G>A (p.Trp892Ter) rs1763249655
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) rs760024899
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) rs1581138965
NM_001046.3(SLC12A2):c.3419A>G (p.Glu1140Gly)
NM_001046.3(SLC12A2):c.3533T>A (p.Val1178Glu)
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val) rs768256710
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) rs761150347
NM_001046.3(SLC12A2):c.541G>T (p.Glu181Ter)
NM_001046.3(SLC12A2):c.555dup (p.His186fs) rs1759998554
NM_001046.3(SLC12A2):c.562GGC[6] (p.Gly192dup) rs751759733
NM_001046.3(SLC12A2):c.877G>A (p.Val293Ile)
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) rs1484832467
NM_001046.3(SLC12A2):c.980C>T (p.Ala327Val) rs1761279419

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