ClinVar Miner

List of variants in gene SLC34A3 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001177316.2(SLC34A3):c.413C>T (p.Ser138Phe) rs141734934 0.00021
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00019
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00016
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00005
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_001177316.2(SLC34A3):c.1664G>A (p.Trp555Ter) rs1245002528 0.00002
NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile) rs369400414 0.00002
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs) rs781602446 0.00001
NM_001177316.2(SLC34A3):c.1268G>A (p.Gly423Asp) rs144329336 0.00001
NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr) rs748739254 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001177316.2(SLC34A3):c.1093+2T>C rs1836451628
NM_001177316.2(SLC34A3):c.1093_1093+9del
NM_001177316.2(SLC34A3):c.1128C>A (p.Tyr376Ter)
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1256G>A (p.Gly419Asp) rs2538815347
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_001177316.2(SLC34A3):c.1315_1321dup (p.Leu441fs)
NM_001177316.2(SLC34A3):c.1335+1G>C
NM_001177316.2(SLC34A3):c.1382G>A (p.Trp461Ter)
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) rs777986863
NM_001177316.2(SLC34A3):c.1460_1466del (p.Val487fs)
NM_001177316.2(SLC34A3):c.1501del (p.Leu501fs)
NM_001177316.2(SLC34A3):c.1502del (p.Leu501fs) rs1836579405
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1603C>T (p.Gln535Ter)
NM_001177316.2(SLC34A3):c.176-1G>A rs1158991453
NM_001177316.2(SLC34A3):c.181del (p.Arg61fs) rs1473192539
NM_001177316.2(SLC34A3):c.197_246del (p.Leu66fs)
NM_001177316.2(SLC34A3):c.305-1G>C rs770803386
NM_001177316.2(SLC34A3):c.448+2T>C
NM_001177316.2(SLC34A3):c.511A>C (p.Ser171Arg)
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001177316.2(SLC34A3):c.600G>A (p.Trp200Ter)
NM_001177316.2(SLC34A3):c.699_700delinsTT (p.Gln234Ter)
NM_001177316.2(SLC34A3):c.756+1G>C
NM_001177316.2(SLC34A3):c.828C>A (p.Cys276Ter)
NM_001177316.2(SLC34A3):c.85+1G>A
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001177316.2(SLC34A3):c.926-1G>C

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