List of variants in gene combination LOC129996727, SLC17A5 reported as likely pathogenic for bone 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157	0.00003
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter)
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)	rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*)	rs2150128117
NM_012434.5(SLC17A5):c.4del (p.Arg2fs)
NM_012434.5(SLC17A5):c.57_72del (p.Thr20fs)

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