List of variants in gene combination SP110, SP140 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
NM_080424.4(SP110):c.583+8A>G	rs114743173	0.00224
NM_080424.4(SP110):c.584-10C>G	rs148591984	0.00188
NM_080424.4(SP110):c.328T>C (p.Tyr110His)	rs200651686	0.00049
NM_080424.4(SP110):c.459G>A (p.Ala153=)	rs201957445	0.00029
NM_080424.4(SP110):c.-85T>C	rs199943005	0.00023
NM_080424.4(SP110):c.431C>A (p.Pro144His)	rs151199258	0.00011
NM_080424.4(SP110):c.898+14A>G	rs200753717	0.00011
NM_080424.4(SP110):c.335G>A (p.Trp112Ter)	rs757092766	0.00010
NM_080424.4(SP110):c.237T>G (p.Ser79=)	rs202135641	0.00007
NM_080424.4(SP110):c.842A>G (p.Lys281Arg)	rs187168146	0.00007
NM_080424.4(SP110):c.293C>T (p.Thr98Met)	rs755163914	0.00006
NM_080424.4(SP110):c.370C>T (p.Pro124Ser)	rs1158665994	0.00006
NM_080424.4(SP110):c.544C>T (p.Pro182Ser)	rs199978387	0.00006
NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)	rs201394862	0.00005
NM_080424.4(SP110):c.86A>T (p.Lys29Met)	rs756746930	0.00005
NM_080424.4(SP110):c.23T>C (p.Met8Thr)	rs200067258	0.00004
NM_080424.4(SP110):c.929A>C (p.Lys310Thr)	rs200591551	0.00004
NM_080424.4(SP110):c.952G>C (p.Val318Leu)	rs201742692	0.00003
NM_080424.4(SP110):c.317T>C (p.Val106Ala)	rs768821081	0.00002
NM_080424.4(SP110):c.386A>G (p.Glu129Gly)	rs140974206	0.00002
NM_080424.4(SP110):c.413C>T (p.Ala138Val)	rs114017623	0.00002
NM_080424.4(SP110):c.899-3C>T	rs200606484	0.00002
NM_080424.4(SP110):c.934C>G (p.Leu312Val)	rs1056828943	0.00002
NM_080424.4(SP110):c.938A>G (p.Lys313Arg)	rs1317519602	0.00002
NM_080424.4(SP110):c.1019C>T (p.Thr340Ile)	rs752428563	0.00001
NM_080424.4(SP110):c.1031G>A (p.Arg344Gln)	rs144163010	0.00001
NM_080424.4(SP110):c.1067C>T (p.Ser356Leu)	rs775810248	0.00001
NM_080424.4(SP110):c.196C>T (p.His66Tyr)	rs370656079	0.00001
NM_080424.4(SP110):c.338A>G (p.Gln113Arg)	rs577324370	0.00001
NM_080424.4(SP110):c.342C>A (p.Ser114Arg)	rs1559178549	0.00001
NM_080424.4(SP110):c.407C>T (p.Pro136Leu)	rs768753285	0.00001
NM_080424.4(SP110):c.463A>G (p.Arg155Gly)	rs1441620017	0.00001
NM_080424.4(SP110):c.518C>T (p.Ser173Leu)	rs41552315	0.00001
NM_080424.4(SP110):c.550C>T (p.Pro184Ser)	rs750052870	0.00001
NM_080424.4(SP110):c.671C>G (p.Ala224Gly)	rs754038132	0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=)	rs1167489264	0.00001
NM_080424.4(SP110):c.740G>A (p.Gly247Asp)	rs900156609	0.00001
NM_080424.4(SP110):c.751G>C (p.Glu251Gln)	rs199507633	0.00001
NM_080424.4(SP110):c.826A>G (p.Lys276Glu)	rs2044285386	0.00001
NM_080424.4(SP110):c.829+10G>A	rs759280256	0.00001
NM_080424.4(SP110):c.877A>G (p.Lys293Glu)	rs199845488	0.00001
NM_080424.4(SP110):c.900G>A (p.Gly300=)	rs886055765	0.00001
NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup)	rs769621341
NM_080424.4(SP110):c.1031G>C (p.Arg344Pro)	rs144163010
NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)	rs1574675911
NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)
NM_080424.4(SP110):c.1054A>G (p.Ile352Val)	rs1014974380
NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)
NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr)	rs1559162086
NM_080424.4(SP110):c.1102C>G (p.Pro368Ala)	rs962546053
NM_080424.4(SP110):c.1106G>C (p.Ser369Thr)	rs1353393264
NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)
NM_080424.4(SP110):c.1129+4A>G
NM_080424.4(SP110):c.1130-10T>C
NM_080424.4(SP110):c.1130-16A>G	rs2148751501
NM_080424.4(SP110):c.127A>G (p.Ile43Val)	rs886055766
NM_080424.4(SP110):c.148-3T>C
NM_080424.4(SP110):c.178C>A (p.Pro60Thr)	rs2044957058
NM_080424.4(SP110):c.185C>G (p.Ser62Cys)	rs202029779
NM_080424.4(SP110):c.185C>T (p.Ser62Phe)	rs202029779
NM_080424.4(SP110):c.209C>T (p.Thr70Ile)	rs2044953751
NM_080424.4(SP110):c.26A>G (p.Glu9Gly)
NM_080424.4(SP110):c.271C>A (p.Arg91Ser)	rs201053153
NM_080424.4(SP110):c.271C>T (p.Arg91Cys)	rs201053153
NM_080424.4(SP110):c.272G>A (p.Arg91His)
NM_080424.4(SP110):c.316+6G>A	rs201244482
NM_080424.4(SP110):c.340A>G (p.Ser114Gly)	rs2044663300
NM_080424.4(SP110):c.342_346del (p.Ser114fs)	rs1559178521
NM_080424.4(SP110):c.362T>C (p.Leu121Pro)	rs2148926939
NM_080424.4(SP110):c.374C>G (p.Thr125Ser)
NM_080424.4(SP110):c.401A>G (p.His134Arg)	rs2044658221
NM_080424.4(SP110):c.404C>T (p.Thr135Ile)
NM_080424.4(SP110):c.470G>A (p.Ser157Asn)
NM_080424.4(SP110):c.470G>C (p.Ser157Thr)
NM_080424.4(SP110):c.473A>G (p.Glu158Gly)
NM_080424.4(SP110):c.500A>G (p.Asp167Gly)
NM_080424.4(SP110):c.513T>G (p.Ser171Arg)	rs529350933
NM_080424.4(SP110):c.569G>T (p.Gly190Val)	rs2044640933
NM_080424.4(SP110):c.583+3G>A
NM_080424.4(SP110):c.583+6A>G	rs2148925559
NM_080424.4(SP110):c.617C>A (p.Ala206Glu)	rs28930679
NM_080424.4(SP110):c.635A>G (p.Glu212Gly)	rs1047254
NM_080424.4(SP110):c.644G>T (p.Ser215Ile)	rs2148922803
NM_080424.4(SP110):c.646C>G (p.Leu216Val)
NM_080424.4(SP110):c.662T>C (p.Val221Ala)
NM_080424.4(SP110):c.665A>G (p.Gln222Arg)
NM_080424.4(SP110):c.669G>A (p.Val223=)
NM_080424.4(SP110):c.671C>T (p.Ala224Val)
NM_080424.4(SP110):c.674G>A (p.Ser225Asn)	rs199743367
NM_080424.4(SP110):c.68T>C (p.Ile23Thr)	rs2148952479
NM_080424.4(SP110):c.718G>C (p.Glu240Gln)	rs2044474258
NM_080424.4(SP110):c.719A>G (p.Glu240Gly)
NM_080424.4(SP110):c.725C>T (p.Pro242Leu)	rs765229595
NM_080424.4(SP110):c.728A>G (p.His243Arg)
NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln)	rs2148917098
NM_080424.4(SP110):c.802G>T (p.Val268Leu)
NM_080424.4(SP110):c.814C>A (p.Pro272Thr)
NM_080424.4(SP110):c.829+15T>C	rs372230531
NM_080424.4(SP110):c.82C>T (p.His28Tyr)	rs865950609
NM_080424.4(SP110):c.832A>G (p.Lys278Glu)
NM_080424.4(SP110):c.848G>C (p.Cys283Ser)	rs754775004
NM_080424.4(SP110):c.848G>T (p.Cys283Phe)	rs754775004
NM_080424.4(SP110):c.87G>C (p.Lys29Asn)	rs2148952318
NM_080424.4(SP110):c.880A>G (p.Lys294Glu)
NM_080424.4(SP110):c.8C>T (p.Thr3Ile)
NM_080424.4(SP110):c.911C>T (p.Ser304Phe)	rs2043304942
NM_080424.4(SP110):c.933G>C (p.Lys311Asn)	rs2148861711

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