List of variants reported as benign for aortic valve disorder by Invitae

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

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1315+17C>T	rs2856728	0.79828
NM_181486.4(TBX5):c.309C>T (p.Leu103=)	rs28730763	0.04319
NM_000501.4(ELN):c.2033-16A>G	rs45618836	0.02805
NM_000501.4(ELN):c.2086+5G>C	rs111866046	0.02303
NM_181486.4(TBX5):c.148-19T>A	rs80026530	0.01865
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)	rs6489957	0.01766
NM_000501.4(ELN):c.427+8C>T	rs55868272	0.01032
NM_000501.4(ELN):c.1622-13C>T	rs41362346	0.00728
NM_181486.4(TBX5):c.982+16C>T	rs28730762	0.00694
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser)	rs368960350	0.00546
NM_005585.5(SMAD6):c.711C>T (p.His237=)	rs144415105	0.00542
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=)	rs12591946	0.00538
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)	rs34945509	0.00505
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)	rs188799901	0.00505
NM_000501.4(ELN):c.493G>T (p.Val165Leu)	rs61734581	0.00472
NM_181486.4(TBX5):c.787G>A (p.Val263Met)	rs147405081	0.00423
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	rs77357563	0.00382
NM_000501.4(ELN):c.892G>A (p.Val298Ile)	rs41526244	0.00347
NM_000501.4(ELN):c.921A>G (p.Ala307=)	rs6979788	0.00327
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)	rs114124210	0.00301
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala)	rs144341345	0.00297
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)	rs140425210	0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=)	rs61734584	0.00283
NM_000501.4(ELN):c.1858+20G>A	rs200965648	0.00270
NM_005585.5(SMAD6):c.817+9G>C	rs200726236	0.00239
NM_181486.4(TBX5):c.114C>T (p.Ser38=)	rs34014008	0.00194
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=)	rs368834798	0.00154
NM_181486.4(TBX5):c.804C>G (p.Ala268=)	rs35110399	0.00143
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	rs150404125	0.00142
NM_000501.4(ELN):c.1821G>C (p.Gly607=)	rs144835575	0.00109
NM_005585.5(SMAD6):c.909G>A (p.Thr303=)	rs139719094	0.00108
NM_000501.4(ELN):c.469+14G>A	rs41347751	0.00103
NM_000501.4(ELN):c.1358-268A>G	rs374066807	0.00102
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	rs80232004	0.00101
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)	rs147710408	0.00086
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)	rs140411170	0.00080
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)	rs200180992	0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val)	rs41350445	0.00073
NM_000501.4(ELN):c.326-20C>T	rs200397639	0.00066
NM_000501.4(ELN):c.470-10C>G	rs200663056	0.00053
NM_181486.4(TBX5):c.747A>G (p.Arg249=)	rs138552878	0.00051
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	rs181019457	0.00048
NM_000501.4(ELN):c.1621+12G>A	rs200937895	0.00046
NM_005585.5(SMAD6):c.447C>T (p.Ala149=)	rs181184476	0.00045
NM_181486.4(TBX5):c.354T>C (p.Asp118=)	rs151249768	0.00039
NM_000501.4(ELN):c.366A>G (p.Gly122=)	rs61734587	0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)	rs41376344	0.00034
NM_000501.4(ELN):c.1747+82C>A	rs186744935	0.00029
NM_181486.4(TBX5):c.948G>A (p.Glu316=)	rs767086503	0.00028
NM_000501.4(ELN):c.1414+19C>T	rs201440090	0.00025
NM_181486.4(TBX5):c.147+13C>A	rs201290379	0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=)	rs141457646	0.00024
NM_000501.4(ELN):c.1747+83C>T	rs191593990	0.00021
NM_000501.4(ELN):c.427+9G>A	rs370752724	0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=)	rs200512332	0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=)	rs146576615	0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016
NM_000501.4(ELN):c.1358-236G>A	rs529133775	0.00013
NM_000501.4(ELN):c.1414+20G>A	rs200995478	0.00010
NM_000501.4(ELN):c.1918+19T>G	rs557259683	0.00009
NM_005585.5(SMAD6):c.405C>T (p.Ala135=)	rs538097406	0.00009
NM_181486.4(TBX5):c.1152G>A (p.Ala384=)	rs200073406	0.00009
NM_000501.4(ELN):c.644-8C>T	rs201859539	0.00008
NM_000501.4(ELN):c.133+11T>C	rs28763980	0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=)	rs186780790	0.00007
NM_181486.4(TBX5):c.786C>T (p.Thr262=)	rs375955080	0.00006
NM_000501.4(ELN):c.2132-5T>A	rs539160518	0.00004
NM_000501.4(ELN):c.643+16G>A	rs199662424	0.00004
NM_181486.4(TBX5):c.1425C>G (p.Gly475=)	rs199729532	0.00004
NM_000501.4(ELN):c.1404C>T (p.Ala468=)	rs189952915	0.00003
NM_000501.4(ELN):c.470-5G>A	rs368292481	0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)	rs145365553	0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=)	rs567785340	0.00003
NM_000501.4(ELN):c.686-17G>A	rs149812011	0.00002
NM_000501.4(ELN):c.1747+80C>T	rs369548102	0.00001
NM_000501.4(ELN):c.233-4G>A	rs782410717	0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)	rs557758851	0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	rs117965596	0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met)	rs200382742	0.00001
NM_000501.4(ELN):c.1096+12TG[16]	rs10579871
NM_000501.4(ELN):c.1096+12TG[17]	rs10579871
NM_000501.4(ELN):c.1096+12TG[18]	rs10579871
NM_000501.4(ELN):c.1096+12TG[20]	rs10579871
NM_000501.4(ELN):c.1096+12TG[21]	rs10579871
NM_000501.4(ELN):c.1096+12TG[22]	rs10579871
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)	rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=)	rs61734583
NM_000501.4(ELN):c.133+16C>A	rs144223231
NM_000501.4(ELN):c.134-19T>C	rs535249280
NM_000501.4(ELN):c.134-5C>A	rs202142516
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del)	rs1563852165
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)	rs17855988
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.924A>T (p.Ala308=)	rs539451717
NM_000501.4(ELN):c.949+8_949+19del
NM_005585.5(SMAD6):c.120C>A (p.Gly40=)	rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)	rs149612008
NM_005585.5(SMAD6):c.952+13del	rs761315842
NM_181486.4(TBX5):c.1157C>A (p.Pro386His)	rs771857554
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe)	rs190881877

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