ClinVar Miner

List of variants in gene CFTR reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.1019_1020TC[3] (p.Phe342fs) rs387906360
NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1047G>A (p.Ala349=)
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle) rs797044788
NM_000492.3(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.3(CFTR):c.109A>G (p.Ile37Val)
NM_000492.3(CFTR):c.1116+6G>C rs762964768
NM_000492.3(CFTR):c.1149G>A (p.Leu383=) rs1562892844
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1164G>A (p.Thr388=) rs1800088
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-13_1210-10delGTTT rs765376630
NM_000492.3(CFTR):c.1210-14_1210-13insTG rs796065326
NM_000492.3(CFTR):c.1210-15G>T rs947648829
NM_000492.3(CFTR):c.1210-32T>G rs886044712
NM_000492.3(CFTR):c.1227T>C (p.Phe409=) rs778548877
NM_000492.3(CFTR):c.1231A>G (p.Lys411Glu) rs748155731
NM_000492.3(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) rs143456784
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1357_1359TTG[1] (p.Leu454del) rs397508194
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1393-42G>A rs34906874
NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1408= (p.Val470=) rs213950
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1430C>A (p.Pro477His) rs886044297
NM_000492.3(CFTR):c.1436A>C (p.Glu479Ala) rs886043543
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1446T>A (p.Ile482=)
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) rs397508210
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) rs77101217
NM_000492.3(CFTR):c.1479G>C (p.Gln493His) rs1554384373
NM_000492.3(CFTR):c.1499G>A (p.Gly500Asp) rs774945680
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1519_1521delATC rs121908745
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1534T>A (p.Tyr512Asn) rs1562898472
NM_000492.3(CFTR):c.1552A>G (p.Arg518Gly) rs1562898497
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1680-6T>G
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1680-8C>A rs1562907146
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1718C>T (p.Ser573Phe) rs772223589
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) rs397508296
NM_000492.3(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.3(CFTR):c.1766+2T>A rs1554389062
NM_000492.3(CFTR):c.1766+3A>G rs397508298
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2042A>T (p.Glu681Val) rs201295415
NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) rs121908760
NM_000492.3(CFTR):c.2145A>C (p.Gln715His)
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2191C>T (p.Pro731Ser) rs1562908065
NM_000492.3(CFTR):c.2193T>C (p.Pro731=) rs886043733
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2251C>T (p.Arg751Cys)
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.226T>A (p.Cys76Ser) rs757959325
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.2372_2377del (p.Thr791_Arg792del) rs1562908169
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2490+5G>T rs764466147
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.250T>C (p.Tyr84His) rs745756794
NM_000492.3(CFTR):c.2544A>T (p.Thr848=) rs751242146
NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2561_2562delinsTG (p.Thr854Met) rs1554389814
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2619+1G>A rs1554389836
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2658-2A>G rs1554390958
NM_000492.3(CFTR):c.2659A>C (p.Thr887Pro) rs770359007
NM_000492.3(CFTR):c.2665C>T (p.Leu889Phe)
NM_000492.3(CFTR):c.2673C>G (p.Asp891Glu) rs776350132
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2736G>C (p.Ser912=)
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2772C>A (p.Asp924Glu) rs1562911610
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>A (p.Met952Ile)
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2882T>C (p.Met961Thr) rs769377991
NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys)
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2908+4C>A
NM_000492.3(CFTR):c.2909-4A>G rs397508457
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.2988G>A (p.Gln996=) rs121908797
NM_000492.3(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.332C>G (p.Pro111Arg) rs140502196
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-4A>G
NM_000492.3(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549
NM_000492.3(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738
NM_000492.3(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3588A>T (p.Ser1196=)
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3665G>A (p.Gly1222Asp) rs1562919449
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp)
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.3(CFTR):c.377G>T (p.Gly126Val)
NM_000492.3(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3846G>C (p.Trp1282Cys)
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=)
NM_000492.3(CFTR):c.3853G>A (p.Ala1285Thr)
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3873+7A>T
NM_000492.3(CFTR):c.3874-21_3874-15dup rs1554396379
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.3893G>T (p.Gly1298Val)
NM_000492.3(CFTR):c.3895A>G (p.Thr1299Ala)
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3933T>G (p.Ser1311Arg) rs962313398
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.3964-16T>C rs199672530
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.3(CFTR):c.4036C>T (p.Leu1346=) rs1562928908
NM_000492.3(CFTR):c.403A>G (p.Thr135Ala)
NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) rs397508673
NM_000492.3(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428
NM_000492.3(CFTR):c.416A>C (p.His139Pro) rs76371115
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.3(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.489+87A>G
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.49_50dupTT rs397508714
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.561C>T (p.Asn187=)
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.581G>T (p.Gly194Val)
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) rs397508776
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.688C>T (p.Leu230=)
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.710A>G (p.Gln237Arg) rs1554380493
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.743+1G>A rs397508791
NM_000492.3(CFTR):c.744-9_744-6dup rs1805171
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.3(CFTR):c.806T>C (p.Ile269Thr)
NM_000492.3(CFTR):c.837A>T (p.Glu279Asp) rs773509355
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.848_860delinsTG (p.Lys283fs) rs796065332
NM_000492.3(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.869+1G>C rs1330431481
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.948T>G (p.Phe316Leu) rs78742051
NM_000492.3(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.3(CFTR):c.974A>G (p.Tyr325Cys)
Single allele

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