ClinVar Miner

List of variants in gene SLC12A3 reported by Ambry Genetics

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) rs56125220 0.00023
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) rs201130736 0.00019
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) rs140363569 0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val) rs368783800 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001126108.2(SLC12A3):c.1568-4G>A rs374303576 0.00003
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001126108.2(SLC12A3):c.1565T>A (p.Ile522Asn) rs1254584108 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.1136T>A (p.Ile379Asn)
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.1292C>G (p.Thr431Ser)
NM_001126108.2(SLC12A3):c.1508A>G (p.Lys503Arg)
NM_001126108.2(SLC12A3):c.1535C>T (p.Ala512Val)
NM_001126108.2(SLC12A3):c.1556T>C (p.Phe519Ser)
NM_001126108.2(SLC12A3):c.1658C>A (p.Thr553Asn)
NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val)
NM_001126108.2(SLC12A3):c.1756T>G (p.Trp586Gly)
NM_001126108.2(SLC12A3):c.1795C>T (p.Leu599Phe)
NM_001126108.2(SLC12A3):c.1876A>G (p.Ser626Gly)
NM_001126108.2(SLC12A3):c.2329C>T (p.Arg777Trp)
NM_001126108.2(SLC12A3):c.2361G>C (p.Gln787His)
NM_001126108.2(SLC12A3):c.2459C>G (p.Thr820Ser)
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)
NM_001126108.2(SLC12A3):c.2812C>T (p.Pro938Ser)
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser)
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.2884A>G (p.Ile962Val)
NM_001126108.2(SLC12A3):c.301C>A (p.His101Asn)
NM_001126108.2(SLC12A3):c.303T>A (p.His101Gln)
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.401T>C (p.Val134Ala)
NM_001126108.2(SLC12A3):c.512C>A (p.Thr171Asn)
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)
NM_001126108.2(SLC12A3):c.538A>T (p.Thr180Ser)
NM_001126108.2(SLC12A3):c.710G>C (p.Gly237Ala)
NM_001126108.2(SLC12A3):c.752C>T (p.Ala251Val)
NM_001126108.2(SLC12A3):c.754C>G (p.Pro252Ala)
NM_001126108.2(SLC12A3):c.779T>C (p.Ile260Thr)
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
NM_001126108.2(SLC12A3):c.800C>T (p.Ser267Leu)
NM_001126108.2(SLC12A3):c.803T>A (p.Val268Asp)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.923C>T (p.Pro308Leu)

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