List of variants in gene ABCC2 reported as pathogenic by Eurofins NTD LLC (GA)

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)	rs72558199	0.00053
NM_000392.5(ABCC2):c.3258+1G>A	rs762243203	0.00017
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)	rs56199535	0.00010
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)	rs17222547	0.00009
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)	rs371866713	0.00006
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)	rs773850184	0.00004
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter)	rs1257076487	0.00003
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs)	rs1333544687	0.00003
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs)	rs919078015	0.00002
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter)	rs183923599	0.00002
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter)	rs761406918	0.00002
NM_000392.5(ABCC2):c.697dup (p.Met233fs)	rs1314486961	0.00002
NM_000392.5(ABCC2):c.1291del (p.Leu431fs)	rs1208873596	0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)	rs1564687941	0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)	rs772673105	0.00001
NM_000392.5(ABCC2):c.2426del (p.Leu809fs)	rs765580991	0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe)	rs72558201	0.00001
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter)	rs559137047	0.00001
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs)	rs1158274146	0.00001
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs)	rs1554851699
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs)	rs1564674618
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)	rs776087856
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter)	rs1554849397
NM_000392.5(ABCC2):c.1968-1G>C	rs756707816
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg)	rs764958537
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs)	rs1564688595
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter)	rs771652807
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs)	rs777325157
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs)	rs774778158
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs)	rs762291612
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter)	rs577353173
NM_000392.5(ABCC2):c.3741+1G>A	rs34937870
NM_000392.5(ABCC2):c.3741+1G>T	rs34937870
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs)	rs1554854612
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter)	rs1564702358
NM_000392.5(ABCC2):c.476del (p.Asn159fs)	rs769798659

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