ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_001177316.2(SLC34A3):c.175+123C>T rs111532084 0.02353
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001177316.2(SLC34A3):c.477C>T (p.Ile159=) rs116743582 0.00813
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn) rs142918575 0.00504
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr) rs200814479 0.00246
NM_001177316.2(SLC34A3):c.1123G>A (p.Gly375Ser) rs201759654 0.00233
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met) rs150570831 0.00202
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
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.321C>T (p.Asp107=) rs114286327 0.00053
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001177316.2(SLC34A3):c.1107G>A (p.Pro369=)
NM_001177316.2(SLC34A3):c.926-83G>A
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302

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