ClinVar Miner

List of variants in gene SLC34A1 reported as likely pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00008
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs) rs1581634382
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705

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