ClinVar Miner

Variants in gene SLC34A3 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00054
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150 0.00018
NM_001177316.2(SLC34A3):c.305-7G>A rs201109343 0.00014
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798

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