ClinVar Miner

List of variants reported for Autosomal recessive hypophosphatemic bone disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=) rs28510663 0.00302
NM_001177316.2(SLC34A3):c.1093+19G>A rs201165474 0.00220
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile) rs200090657 0.00064
NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met) rs202109348 0.00064
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=) rs199701166 0.00039
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=) rs201720181 0.00035
NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys) rs376700316 0.00027
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=) rs202060862 0.00016
NM_001177316.2(SLC34A3):c.304+20C>T rs199652389 0.00014
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=) rs150176604 0.00013
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=) rs140559114 0.00012
NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile) rs557760566 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro) rs765668692 0.00011
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=) rs143867268 0.00009
NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu) rs750347570 0.00007
NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys) rs753910973 0.00007
NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys) rs781443814 0.00006
NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr) rs939469698 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met) rs534880363 0.00005
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile) rs368525218 0.00005
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=) rs200677629 0.00005
NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr) rs757308975 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 0.00004
NM_001177316.2(SLC34A3):c.757-16C>T rs372713559 0.00004
NM_001177316.2(SLC34A3):c.1093+9G>A rs199976309 0.00003
NM_001177316.2(SLC34A3):c.1335+6G>T rs117115558 0.00003
NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg) rs758689905 0.00003
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=) rs772903522 0.00003
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.561-8G>A rs756580408 0.00003
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001177316.2(SLC34A3):c.846+15C>T rs755035076 0.00003
NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly) rs773903138 0.00002
NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His) rs757815865 0.00002
NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val) rs571107918 0.00002
NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp) rs759826596 0.00002
NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser) rs369211663 0.00002
NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys) rs750292913 0.00001
NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr) rs138702939 0.00001
NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu) rs560440785 0.00001
NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp) rs373242362 0.00001
NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val) rs121918235 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=) rs545784124 0.00001
NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr) rs748004842 0.00001
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=) rs1040164729 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.561-9C>T rs1469811548 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser) rs758514484 0.00001
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) rs374826755
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met) rs748862410
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=) rs144275345
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=) rs121918238
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup) rs532224704
NM_001177316.2(SLC34A3):c.449-14C>A rs545767491
NM_001177316.2(SLC34A3):c.449-9C>G rs377306924
NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg) rs200536604
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=) rs747540875
NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del) rs775037904
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met) rs769622295

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