List of variants in gene ENPP1 reported as pathogenic for cardiovascular 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: 32

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)	rs374270497	0.00010
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)	rs121918024	0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)	rs777367269	0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	rs1782357136	0.00001
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)	rs121918025
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs)	rs1554203715
NM_006208.3(ENPP1):c.1094del (p.Pro365fs)	rs2114706946
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe)	rs121918026
NM_006208.3(ENPP1):c.1273+2T>C	rs2114710332
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)	rs387906673
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)	rs2114643507
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter)	rs1167413684
NM_006208.3(ENPP1):c.2101-2A>T	rs1585841844
NM_006208.3(ENPP1):c.2192del (p.Asn731fs)	rs2114726975
NM_006208.3(ENPP1):c.2230+1G>A
NM_006208.3(ENPP1):c.2230+5G>A
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter)	rs2114727013
NM_006208.3(ENPP1):c.2300del (p.Gln767fs)	rs2114728448
NM_006208.3(ENPP1):c.2664del (p.Ile889fs)	rs2114737043
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)	rs121918023
NM_006208.3(ENPP1):c.26dup (p.Gly10fs)	rs1470739291
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter)	rs751725130
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)	rs1805101
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)	rs1781877793
NM_006208.3(ENPP1):c.574del (p.Glu192fs)	rs1234826768
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)	rs267606784
NM_006208.3(ENPP1):c.795+1G>A	rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)	rs121908248
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs)	rs1401810953
NM_006208.3(ENPP1):c.915+1G>A	rs2114702198
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del

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