ClinVar Miner

List of variants reported as likely pathogenic for hypophosphatemic nephrolithiasis/osteoporosis 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00008
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter) rs377186926 0.00005
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677 0.00003
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.1008C>A (p.Cys336Ter)
NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)
NM_003052.5(SLC34A1):c.1614G>A (p.Trp538Ter)
NM_003052.5(SLC34A1):c.189_190del (p.Cys64fs)
NM_003052.5(SLC34A1):c.189del (p.Cys64fs)
NM_003052.5(SLC34A1):c.247G>T (p.Glu83Ter)
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.778_809delinsAGC (p.Gly260fs)
NM_003052.5(SLC34A1):c.876_877del (p.Gly292_Asp293insTer)
NM_003052.5(SLC34A1):c.897_898del (p.His299fs)

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