ClinVar Miner

List of variants reported as uncertain significance for Familial hypokalemia-hypomagnesemia by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
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.323G>A (p.Arg108Gln) rs768537535 0.00019
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) rs201696394 0.00016
NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val) rs368783800 0.00011
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr) rs142414514 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) rs201341355 0.00008
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr) rs146191537 0.00007
NM_001126108.2(SLC12A3):c.429+8G>A rs764783539 0.00007
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) rs748652939 0.00004
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) rs752124879 0.00004
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) rs56259558 0.00004
NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu) rs141867836 0.00004
NM_001126108.2(SLC12A3):c.360C>T (p.Gly120=) rs753383791 0.00004
NM_001126108.2(SLC12A3):c.1568-4G>A rs374303576 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.2152C>T (p.Arg718Cys) rs777342064 0.00003
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001126108.2(SLC12A3):c.1761G>C (p.Trp587Cys) rs1316593507 0.00001
NM_001126108.2(SLC12A3):c.2143G>A (p.Glu715Lys) rs766585725 0.00001
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) rs758304056 0.00001
NM_001126108.2(SLC12A3):c.283-2A>C rs377456965 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) rs387907469 0.00001
NM_001126108.2(SLC12A3):c.1004G>T (p.Gly335Val)
NM_001126108.2(SLC12A3):c.1010A>G (p.Asp337Gly)
NM_001126108.2(SLC12A3):c.1080A>G (p.Ile360Met)
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn) rs2144709063
NM_001126108.2(SLC12A3):c.1148C>T (p.Thr383Ile)
NM_001126108.2(SLC12A3):c.1179T>G (p.Ile393Met)
NM_001126108.2(SLC12A3):c.1228A>G (p.Thr410Ala)
NM_001126108.2(SLC12A3):c.1231C>A (p.Pro411Thr)
NM_001126108.2(SLC12A3):c.1240G>T (p.Gly414Cys)
NM_001126108.2(SLC12A3):c.1280T>G (p.Phe427Cys)
NM_001126108.2(SLC12A3):c.1301A>G (p.His434Arg)
NM_001126108.2(SLC12A3):c.1306_1317del (p.Cys436_Gly439del)
NM_001126108.2(SLC12A3):c.1360G>A (p.Ala454Thr)
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)
NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe)
NM_001126108.2(SLC12A3):c.1463T>G (p.Leu488Arg)
NM_001126108.2(SLC12A3):c.1477G>A (p.Gly493Ser)
NM_001126108.2(SLC12A3):c.1508A>G (p.Lys503Arg)
NM_001126108.2(SLC12A3):c.1540G>A (p.Ala514Thr)
NM_001126108.2(SLC12A3):c.1566C>T (p.Ile522=)
NM_001126108.2(SLC12A3):c.1600A>C (p.Asn534His)
NM_001126108.2(SLC12A3):c.1658C>G (p.Thr553Ser) rs761816117
NM_001126108.2(SLC12A3):c.1695CAA[1] (p.Asn566del)
NM_001126108.2(SLC12A3):c.1759T>G (p.Trp587Gly)
NM_001126108.2(SLC12A3):c.1764G>A (p.Ala588=)
NM_001126108.2(SLC12A3):c.1782C>T (p.Gly594=)
NM_001126108.2(SLC12A3):c.1796T>C (p.Leu599Pro)
NM_001126108.2(SLC12A3):c.1805A>G (p.Tyr602Cys)
NM_001126108.2(SLC12A3):c.1826A>C (p.Glu609Ala)
NM_001126108.2(SLC12A3):c.1849C>G (p.Gln617Glu)
NM_001126108.2(SLC12A3):c.1859C>T (p.Ser620Phe)
NM_001126108.2(SLC12A3):c.1876A>G (p.Ser626Gly)
NM_001126108.2(SLC12A3):c.187G>A (p.Val63Met)
NM_001126108.2(SLC12A3):c.1883C>T (p.Ser628Leu)
NM_001126108.2(SLC12A3):c.2000G>A (p.Arg667Gln)
NM_001126108.2(SLC12A3):c.2028C>G (p.His676Gln)
NM_001126108.2(SLC12A3):c.202G>A (p.Glu68Lys)
NM_001126108.2(SLC12A3):c.2032C>T (p.Leu678Phe)
NM_001126108.2(SLC12A3):c.2037C>T (p.Ile679=)
NM_001126108.2(SLC12A3):c.2041C>T (p.Pro681Ser)
NM_001126108.2(SLC12A3):c.2060C>A (p.Pro687His)
NM_001126108.2(SLC12A3):c.2069A>G (p.Gln690Arg)
NM_001126108.2(SLC12A3):c.2069A>T (p.Gln690Leu)
NM_001126108.2(SLC12A3):c.2074A>G (p.Ile692Val)
NM_001126108.2(SLC12A3):c.2081A>G (p.Asn694Ser)
NM_001126108.2(SLC12A3):c.2086C>T (p.His696Tyr)
NM_001126108.2(SLC12A3):c.2092A>G (p.Lys698Glu)
NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys)
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2204C>A (p.Pro735His)
NM_001126108.2(SLC12A3):c.2238G>T (p.Trp746Cys)
NM_001126108.2(SLC12A3):c.2243C>T (p.Ser748Leu)
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.2285+18A>T
NM_001126108.2(SLC12A3):c.2303A>C (p.Asn768Thr)
NM_001126108.2(SLC12A3):c.2348C>T (p.Ser783Phe)
NM_001126108.2(SLC12A3):c.235C>T (p.Pro79Ser)
NM_001126108.2(SLC12A3):c.2367C>G (p.His789Gln)
NM_001126108.2(SLC12A3):c.2377G>A (p.Val793Met)
NM_001126108.2(SLC12A3):c.2419+10C>T
NM_001126108.2(SLC12A3):c.2468A>T (p.Gln823Leu)
NM_001126108.2(SLC12A3):c.2522-19C>G
NM_001126108.2(SLC12A3):c.2537T>A (p.Ile846Asn)
NM_001126108.2(SLC12A3):c.2609A>G (p.Asn870Ser)
NM_001126108.2(SLC12A3):c.2614A>G (p.Met872Val)
NM_001126108.2(SLC12A3):c.2617G>C (p.Asp873His)
NM_001126108.2(SLC12A3):c.2633+6T>A
NM_001126108.2(SLC12A3):c.2671C>T (p.His891Tyr)
NM_001126108.2(SLC12A3):c.2677G>T (p.Val893Phe)
NM_001126108.2(SLC12A3):c.2692G>A (p.Asp898Asn)
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)
NM_001126108.2(SLC12A3):c.2721-6C>A
NM_001126108.2(SLC12A3):c.2721C>T (p.His907=)
NM_001126108.2(SLC12A3):c.2741T>C (p.Met914Thr)
NM_001126108.2(SLC12A3):c.277C>T (p.Leu93Phe)
NM_001126108.2(SLC12A3):c.2794G>A (p.Glu932Lys)
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.2798T>C (p.Met933Thr)
NM_001126108.2(SLC12A3):c.2804G>T (p.Arg935Leu)
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser)
NM_001126108.2(SLC12A3):c.2856+11G>A
NM_001126108.2(SLC12A3):c.2923A>G (p.Ile975Val)
NM_001126108.2(SLC12A3):c.2924+6T>C
NM_001126108.2(SLC12A3):c.2925-3C>T
NM_001126108.2(SLC12A3):c.2969A>G (p.Tyr990Cys)
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
NM_001126108.2(SLC12A3):c.2984A>C (p.Glu995Ala)
NM_001126108.2(SLC12A3):c.3010C>T (p.Pro1004Ser)
NM_001126108.2(SLC12A3):c.301C>T (p.His101Tyr)
NM_001126108.2(SLC12A3):c.308T>A (p.Leu103Gln)
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.365_366delinsAG (p.Ala122Glu)
NM_001126108.2(SLC12A3):c.384G>T (p.Lys128Asn)
NM_001126108.2(SLC12A3):c.386A>G (p.Asn129Ser)
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.404G>T (p.Arg135Leu)
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) rs1964322979
NM_001126108.2(SLC12A3):c.431T>C (p.Ile144Thr)
NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318
NM_001126108.2(SLC12A3):c.463C>T (p.Leu155Phe)
NM_001126108.2(SLC12A3):c.496G>A (p.Ala166Thr)
NM_001126108.2(SLC12A3):c.505G>A (p.Val169Ile)
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)
NM_001126108.2(SLC12A3):c.523A>G (p.Ile175Val)
NM_001126108.2(SLC12A3):c.52_63dup (p.Thr21_Ile22insGlyArgPheThr)
NM_001126108.2(SLC12A3):c.534G>A (p.Ser178=)
NM_001126108.2(SLC12A3):c.540G>A (p.Thr180=)
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
NM_001126108.2(SLC12A3):c.578CCA[1] (p.Thr194del)
NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser)
NM_001126108.2(SLC12A3):c.677C>A (p.Ala226Asp)
NM_001126108.2(SLC12A3):c.685G>A (p.Val229Met)
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
NM_001126108.2(SLC12A3):c.728G>A (p.Arg243Gln)
NM_001126108.2(SLC12A3):c.74T>C (p.Leu25Pro)
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp) rs1529927
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
NM_001126108.2(SLC12A3):c.795G>A (p.Val265=)
NM_001126108.2(SLC12A3):c.82A>C (p.Ser28Arg)
NM_001126108.2(SLC12A3):c.851A>C (p.Lys284Thr)
NM_001126108.2(SLC12A3):c.867C>G (p.Phe289Leu)
NM_001126108.2(SLC12A3):c.872T>A (p.Leu291His)
NM_001126108.2(SLC12A3):c.874G>A (p.Val292Ile)
NM_001126108.2(SLC12A3):c.89A>G (p.Glu30Gly)
NM_001126108.2(SLC12A3):c.922C>T (p.Pro308Ser)
NM_001126108.2(SLC12A3):c.944A>G (p.Lys315Arg)
NM_001126108.2(SLC12A3):c.961C>G (p.Arg321Gly)
NM_001126108.2(SLC12A3):c.962G>A (p.Arg321Gln)
NM_001126108.2(SLC12A3):c.965-12T>G
NM_001126108.2(SLC12A3):c.967G>A (p.Asp323Asn)
NM_001126108.2(SLC12A3):c.976G>A (p.Val326Ile)

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