Variants with conflicting interpretations studied for Familial hypokalemia-hypomagnesemia

Minimum review status of the submission for Familial hypokalemia-hypomagnesemia:		Collection method of the submission for Familial hypokalemia-hypomagnesemia:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
294	103	0	45	27	0	9	77

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Familial hypokalemia-hypomagnesemia		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	34	5	0	0
	likely pathogenic	34	0	7	0	0
	uncertain significance	5	7	0	24	4
	likely benign	0	0	24	0	11
	benign	0	0	4	11	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Familial hypokalemia-hypomagnesemia	294	103	0	45	27	0	9	77

All variants with conflicting interpretations #

Total variants: 77

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)	rs36049418	0.01075
NM_001126108.2(SLC12A3):c.2857-6G>A	rs117981500	0.00557
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	rs111578437	0.00523
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	rs76750525	0.00433
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)	rs35005216	0.00257
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)	rs201519016	0.00185
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	rs147046379	0.00175
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	rs142679083	0.00157
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	rs118121751	0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)	rs150692587	0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)	rs34055681	0.00143
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00102
NM_001126108.2(SLC12A3):c.1567+7C>T	rs376819753	0.00101
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	rs34216426	0.00098
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)	rs35070204	0.00073
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	rs117987946	0.00061
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	rs142199602	0.00048
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001126108.2(SLC12A3):c.1825+5G>A	rs368509876	0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G	rs375828467	0.00029
NM_001126108.2(SLC12A3):c.742-6C>T	rs370741134	0.00027
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)	rs201850644	0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=)	rs147984554	0.00016
NM_001126108.2(SLC12A3):c.2368+8C>A	rs140236327	0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	rs150378634	0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=)	rs539069621	0.00011
NM_001126108.2(SLC12A3):c.602-16G>A	rs750901478	0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	rs373901523	0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001126108.2(SLC12A3):c.2857-7C>T	rs745327566	0.00007
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	rs187885782	0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	rs13306666	0.00006
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=)	rs776210036	0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)	rs370145822	0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	rs752101663	0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	rs374163823	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00004
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)	rs554432544	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=)	rs776382586	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	rs568513106	0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)	rs748575829	0.00002
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	rs121909383	0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	rs753523115	0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=)	rs764801122	0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)	rs886039754	0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	rs747249619	0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)	rs771701344	0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=)	rs150633177	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)	rs369360334	0.00001
NM_001126108.2(SLC12A3):c.741+1G>A	rs1187506921	0.00001
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=)	rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)	rs117440321
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)	rs2144711571
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	rs121909382
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	rs200697179
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)	rs121909380
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=)	rs191194366
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter)	rs747383768
NM_001126108.2(SLC12A3):c.505+5G>A	rs751112698
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)	rs758683818
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp)	rs1437937060
NM_001126108.2(SLC12A3):c.741+8C>G	rs200257610
NM_001126108.2(SLC12A3):c.741+8C>T	rs200257610
NM_001126108.2(SLC12A3):c.852+1G>A	rs2055084531
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	rs748920885

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