List of variants in gene TNFRSF11A reported as pathogenic for autosomal recessive osteopetrosis

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs)	rs2145357936
NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg)	rs121908659
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys)	rs121908657
NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly)	rs121908655
NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg)	rs121908656
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)	rs121908658

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