List of variants in gene SLC34A1 reported as uncertain significance for Hypercalcemia, infantile, 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.1416+5G>A	rs202081023	0.00036
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His)	rs765766600	0.00006
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)	rs201331677	0.00003
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu)	rs548844573	0.00002
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)	rs184668287	0.00001
NM_003052.5(SLC34A1):c.644+5G>A	rs1420848876	0.00001
NM_003052.5(SLC34A1):c.937-2A>C	rs754825865	0.00001
NM_003052.5(SLC34A1):c.1007-13_1007-5del
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)	rs764223255
NM_003052.5(SLC34A1):c.1432TTC[2] (p.Phe480del)	rs779993608
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr)	rs144700897
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	rs876661296
NM_003052.5(SLC34A1):c.532+2T>C	rs1762582225
NM_003052.5(SLC34A1):c.608C>A (p.Ala203Asp)	rs751877533
NM_003052.5(SLC34A1):c.644+5G>C	rs1420848876

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