List of variants in gene ENPP1 studied for digestive system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	rs1044498	0.32168
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)	rs28933977	0.02826
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)	rs8192683	0.00299
NM_006208.3(ENPP1):c.313+11_313+15del	rs771304080	0.00163
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)	rs147346173	0.00028
NM_006208.3(ENPP1):c.*128C>T	rs371896132	0.00021
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)	rs145868241	0.00017
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)	rs199890118	0.00012
NM_006208.3(ENPP1):c.750G>A (p.Pro250=)	rs368742582	0.00009
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)	rs750660271	0.00008
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)	rs201519006	0.00007
NM_006208.3(ENPP1):c.2445-5T>C	rs369942606	0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)	rs187764662	0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)	rs147798392	0.00006
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)	rs201757026	0.00005
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala)	rs754251347	0.00004
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)	rs762065573	0.00003
NM_006208.3(ENPP1):c.1274-5C>T	rs751500820	0.00002
NM_006208.3(ENPP1):c.2311+8A>G	rs760047831	0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	rs1782357136	0.00001
NM_006208.3(ENPP1):c.2608-1G>A	rs149828062	0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)	rs766617922	0.00001
NM_006208.3(ENPP1):c.795+12A>G	rs1781980876	0.00001
NM_006208.3(ENPP1):c.827A>G (p.Asp276Gly)	rs1293256202	0.00001
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter)	rs1258544339
NM_006208.3(ENPP1):c.1437+3_1437+6del	rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del	rs376640801
NM_006208.3(ENPP1):c.1565+1G>T	rs2114715547
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)	rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)	rs1195604374
NM_006208.3(ENPP1):c.313+8_313+9dup	rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	rs879243445

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