ClinVar Miner

List of variants in gene SLC34A1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly) rs876661338
NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) rs121918610
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) rs121918611
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala) rs769409705
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) rs1554095263
NM_003052.5(SLC34A1):c.644+1G>A rs201304511
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) rs1554095568

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