ClinVar Miner

List of variants in gene SLC34A1 reported as uncertain significance for impaired renal function disease

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.*65G>A rs974632595 0.00081
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) rs143201338 0.00066
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) rs144306414 0.00066
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_003052.5(SLC34A1):c.*331A>G rs773037239 0.00042
NM_003052.5(SLC34A1):c.-68G>A rs774774202 0.00041
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003052.5(SLC34A1):c.*239C>A rs768911630 0.00029
NM_003052.5(SLC34A1):c.1700G>A (p.Gly567Glu) rs139804628 0.00025
NM_003052.5(SLC34A1):c.1826C>T (p.Pro609Leu) rs147711480 0.00022
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_003052.5(SLC34A1):c.*241C>T rs774564955 0.00017
NM_003052.5(SLC34A1):c.*301T>C rs769685421 0.00016
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) rs148669433 0.00016
NM_003052.5(SLC34A1):c.*323G>A rs886060469 0.00013
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His) rs765766600 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003052.5(SLC34A1):c.1523C>T (p.Thr508Met) rs148272921 0.00003
NM_003052.5(SLC34A1):c.1352C>T (p.Thr451Ile) rs369749329 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003052.5(SLC34A1):c.*212G>T rs749467217 0.00001
NM_003052.5(SLC34A1):c.*392A>G rs886060470 0.00001
NM_003052.5(SLC34A1):c.*505C>T rs1434332460 0.00001
NM_003052.5(SLC34A1):c.*60G>A rs886060467 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.110-6C>T rs773115741 0.00001
NM_003052.5(SLC34A1):c.1361C>T (p.Thr454Met) rs1489305215 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) rs758409228 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_003052.5(SLC34A1):c.*196C>T rs1182223345
NM_003052.5(SLC34A1):c.*406C>T rs1763052743
NM_003052.5(SLC34A1):c.*52C>T rs1763040748
NM_003052.5(SLC34A1):c.*79G>C rs886060468
NM_003052.5(SLC34A1):c.-48G>C rs886060466
NM_003052.5(SLC34A1):c.1006+2dup
NM_003052.5(SLC34A1):c.1007-7C>G
NM_003052.5(SLC34A1):c.1022T>C (p.Val341Ala)
NM_003052.5(SLC34A1):c.1028C>T (p.Thr343Ile)
NM_003052.5(SLC34A1):c.1037C>T (p.Pro346Leu)
NM_003052.5(SLC34A1):c.1052G>A (p.Gly351Glu)
NM_003052.5(SLC34A1):c.1079T>G (p.Val360Gly)
NM_003052.5(SLC34A1):c.1116G>T (p.Met372Ile)
NM_003052.5(SLC34A1):c.1150G>T (p.Val384Phe)
NM_003052.5(SLC34A1):c.115C>T (p.His39Tyr)
NM_003052.5(SLC34A1):c.117C>G (p.His39Gln)
NM_003052.5(SLC34A1):c.1187C>G (p.Pro396Arg)
NM_003052.5(SLC34A1):c.118A>T (p.Arg40Trp)
NM_003052.5(SLC34A1):c.1228G>A (p.Ala410Thr)
NM_003052.5(SLC34A1):c.1238C>A (p.Thr413Asn)
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.1243G>T (p.Val415Leu)
NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)
NM_003052.5(SLC34A1):c.1290C>T (p.Ile430=)
NM_003052.5(SLC34A1):c.1310T>C (p.Ile437Thr)
NM_003052.5(SLC34A1):c.1316G>A (p.Arg439Lys)
NM_003052.5(SLC34A1):c.131C>A (p.Thr44Asn)
NM_003052.5(SLC34A1):c.1325C>T (p.Pro442Leu)
NM_003052.5(SLC34A1):c.1337G>A (p.Gly446Asp)
NM_003052.5(SLC34A1):c.1495C>T (p.Arg499Cys)
NM_003052.5(SLC34A1):c.1499T>C (p.Met500Thr)
NM_003052.5(SLC34A1):c.1520G>A (p.Arg507His)
NM_003052.5(SLC34A1):c.1534C>T (p.Arg512Cys)
NM_003052.5(SLC34A1):c.1576C>A (p.Leu526Met)
NM_003052.5(SLC34A1):c.1654C>A (p.Leu552Met)
NM_003052.5(SLC34A1):c.175G>A (p.Glu59Lys)
NM_003052.5(SLC34A1):c.1783C>T (p.Arg595Cys)
NM_003052.5(SLC34A1):c.1784G>A (p.Arg595His)
NM_003052.5(SLC34A1):c.1788_1797del (p.Thr597fs)
NM_003052.5(SLC34A1):c.1831C>T (p.Pro611Ser)
NM_003052.5(SLC34A1):c.1836del (p.Arg613fs)
NM_003052.5(SLC34A1):c.1849G>A (p.Glu617Lys)
NM_003052.5(SLC34A1):c.1885G>T (p.Ala629Ser)
NM_003052.5(SLC34A1):c.209G>A (p.Arg70His)
NM_003052.5(SLC34A1):c.23T>G (p.Leu8Arg)
NM_003052.5(SLC34A1):c.241G>C (p.Glu81Gln)
NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)
NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)
NM_003052.5(SLC34A1):c.280C>A (p.Leu94Met)
NM_003052.5(SLC34A1):c.284G>T (p.Arg95Leu)
NM_003052.5(SLC34A1):c.293G>A (p.Gly98Asp)
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.40T>G (p.Ser14Ala)
NM_003052.5(SLC34A1):c.415G>T (p.Asp139Tyr)
NM_003052.5(SLC34A1):c.446G>A (p.Gly149Glu)
NM_003052.5(SLC34A1):c.472G>A (p.Val158Met)
NM_003052.5(SLC34A1):c.511G>A (p.Val171Ile)
NM_003052.5(SLC34A1):c.521T>G (p.Val174Gly)
NM_003052.5(SLC34A1):c.533-11T>A
NM_003052.5(SLC34A1):c.537G>A (p.Leu179=)
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.583A>G (p.Thr195Ala)
NM_003052.5(SLC34A1):c.58G>T (p.Gly20Trp)
NM_003052.5(SLC34A1):c.592A>G (p.Thr198Ala)
NM_003052.5(SLC34A1):c.596A>C (p.Asn199Thr)
NM_003052.5(SLC34A1):c.601A>G (p.Ile201Val)
NM_003052.5(SLC34A1):c.614T>C (p.Met205Thr)
NM_003052.5(SLC34A1):c.640C>T (p.Arg214Trp)
NM_003052.5(SLC34A1):c.644+14G>T
NM_003052.5(SLC34A1):c.644+15G>A
NM_003052.5(SLC34A1):c.706C>G (p.Pro236Ala) rs1356220927
NM_003052.5(SLC34A1):c.714G>C (p.Glu238Asp)
NM_003052.5(SLC34A1):c.761C>T (p.Ser254Phe)
NM_003052.5(SLC34A1):c.775G>A (p.Gly259Ser)
NM_003052.5(SLC34A1):c.795C>G (p.Asp265Glu)
NM_003052.5(SLC34A1):c.796C>A (p.Leu266Met)
NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)
NM_003052.5(SLC34A1):c.898A>G (p.Ser300Gly)
NM_003052.5(SLC34A1):c.902T>C (p.Leu301Pro)
NM_003052.5(SLC34A1):c.913T>C (p.Trp305Arg)
NM_003052.5(SLC34A1):c.943A>G (p.Thr315Ala)
NM_003052.5(SLC34A1):c.94G>C (p.Val32Leu)
NM_003052.5(SLC34A1):c.963G>C (p.Glu321Asp)
NM_003052.5(SLC34A1):c.982C>G (p.Leu328Val)
NM_003052.5(SLC34A1):c.998T>C (p.Met333Thr)

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