List of variants reported as uncertain significance for triple-A syndrome

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 80

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HGVS	dbSNP	gnomAD frequency
NM_015665.6(AAAS):c.-130C>T	rs149864679	0.00832
NM_015665.6(AAAS):c.679T>C (p.Leu227=)	rs80027466	0.00392
NM_015665.6(AAAS):c.-73G>A	rs561616104	0.00252
NM_015665.6(AAAS):c.1249+8G>A	rs200834285	0.00155
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)	rs112579822	0.00039
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)	rs370710427	0.00033
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)	rs144873582	0.00031
NM_015665.6(AAAS):c.63C>G (p.His21Gln)	rs200408293	0.00030
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)	rs138077680	0.00028
NM_015665.6(AAAS):c.1416+8C>T	rs370325323	0.00027
NM_015665.6(AAAS):c.996+12C>T	rs200312077	0.00019
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)	rs368094339	0.00014
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)	rs200871966	0.00014
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)	rs549821547	0.00011
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)	rs745438072	0.00009
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)	rs151043830	0.00009
NM_015665.6(AAAS):c.843C>G (p.Pro281=)	rs145196232	0.00009
NM_015665.6(AAAS):c.308T>C (p.Val103Ala)	rs201692749	0.00008
NM_015665.6(AAAS):c.333C>T (p.Ser111=)	rs146770218	0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=)	rs79881935	0.00007
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)	rs147832114	0.00005
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)	rs182489063	0.00005
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)	rs767718283	0.00004
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)	rs753112469	0.00004
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)	rs886049649	0.00004
NM_015665.6(AAAS):c.307+13C>T	rs761242924	0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val)	rs201451157	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His)	rs141013947	0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=)	rs149487112	0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=)	rs199636211	0.00003
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)	rs568570865	0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)	rs1251641134	0.00002
NM_015665.6(AAAS):c.663C>G (p.Thr221=)	rs886049650	0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)	rs779681475	0.00002
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)	rs750437487	0.00001
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)	rs1382726525	0.00001
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)	rs886049652	0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His)	rs768786904	0.00001
NM_015665.6(AAAS):c.124-4A>G	rs886049651	0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)	rs751369041	0.00001
NM_015665.6(AAAS):c.1417-14T>G	rs748004231	0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)	rs751967235	0.00001
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)	rs1944356188	0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)	rs1745022731	0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=)	rs1174765635	0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)	rs560069464	0.00001
NC_000002.11:g.(?_218999525)_(220435954_?)dup
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)	rs748973371
NM_013335.4(GMPPA):c.12G>A (p.Ala4=)	rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)	rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)	rs773715630
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
NM_015665.6(AAAS):c.-84G>A	rs886049653
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)	rs764298213
NM_015665.6(AAAS):c.1566C>T (p.Ser522=)	rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)	rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)	rs1114167372
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)	rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu)	rs766985003
NM_015665.6(AAAS):c.327G>A (p.Thr109=)	rs190876509
NM_015665.6(AAAS):c.56A>G (p.Tyr19Cys)
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)	rs774899476
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
NM_015665.6(AAAS):c.912T>G (p.Ala304=)	rs138749872
NM_015665.6(AAAS):c.936-2A>G	rs1565777639
NM_015665.6(AAAS):c.936-5C>T	rs1944343648

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