ClinVar Miner

List of variants in gene SLC34A1 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109

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