ClinVar Miner

List of variants in gene SLC34A3 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 21
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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.448+1G>A rs150841256 0.00017
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.1093+1G>C rs751776251 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NC_000009.11:g.(?_140127661)_(140130868_?)del
NM_001177316.2(SLC34A3):c.1093+2T>C
NM_001177316.2(SLC34A3):c.1094-2A>G
NM_001177316.2(SLC34A3):c.1210+2T>C
NM_001177316.2(SLC34A3):c.1336-1G>T
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1653G>A (p.Trp551Ter) rs1064796955
NM_001177316.2(SLC34A3):c.175+1G>T
NM_001177316.2(SLC34A3):c.305-1G>C
NM_001177316.2(SLC34A3):c.410C>T (p.Thr137Met)
NM_001177316.2(SLC34A3):c.449-18_456del rs1836329410
NM_001177316.2(SLC34A3):c.561-1G>A
NM_001177316.2(SLC34A3):c.757-1G>A rs760326604
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044

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