List of variants in gene ENPP1 reported as pathogenic for Hypophosphatemic rickets, autosomal recessive, 2

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006208.3(ENPP1):c.1273+1G>A	rs755969803
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)	rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)	rs121908249
NM_006208.3(ENPP1):c.430+1del	rs1554278331
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)	rs121908248

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