List of variants in gene PTH reported as pathogenic for parathyroid gland disorder

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000315.4(PTH):c.247C>T (p.Arg83Ter)	rs6256
NM_000315.4(PTH):c.52T>C (p.Cys18Arg)	rs104894271
NM_000315.4(PTH):c.67T>C (p.Ser23Pro)	rs104894272
NM_000315.4(PTH):c.86+1G>C	rs2134093224

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