ClinVar Miner

List of variants reported as benign for acrocephalosyndactyly

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
Download table as spreadsheet
HGVS dbSNP
NM_000141.5(FGFR2):c.*111G>A rs574474794
NM_000141.5(FGFR2):c.*1301C>T rs71640261
NM_000141.5(FGFR2):c.*1319A>G rs3135830
NM_000141.5(FGFR2):c.*184C>T rs4647917
NM_000141.5(FGFR2):c.*259C>T rs1047057
NM_000141.5(FGFR2):c.*324A>G rs150519853
NM_000141.5(FGFR2):c.*403A>G rs3135826
NM_000141.5(FGFR2):c.*469G>A rs41294351
NM_000141.5(FGFR2):c.-135C>T rs554557891
NM_000141.5(FGFR2):c.-157A>G rs41258305
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-318G>C rs41301547
NM_000141.5(FGFR2):c.-358C>T rs41301545
NM_000141.5(FGFR2):c.-458C>A rs41301043
NM_000141.5(FGFR2):c.-46G>A rs201606812
NM_000141.5(FGFR2):c.-61G>T
NM_000141.5(FGFR2):c.-626C>A
NM_000141.5(FGFR2):c.-74G>A rs4647922
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
NM_000141.5(FGFR2):c.454+14C>T
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139
NM_001271938.2(MEGF8):c.352-4G>A rs143955737
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414
NM_016277.5(RAB23):c.*1740C>T
NM_016277.5(RAB23):c.*2273T>C
NM_016277.5(RAB23):c.*2425G>A
NM_016277.5(RAB23):c.*2485A>G
NM_016277.5(RAB23):c.*3330A>G
NM_016277.5(RAB23):c.*811G>A rs16888378
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.939+11T>C rs145303463
NM_023110.2(FGFR1):c.*1632A>G rs13317
NM_023110.2(FGFR1):c.-385G>A rs2467531
NM_023110.2(FGFR1):c.-636C>T rs3213849
NM_023110.2(FGFR1):c.-699C>T rs328307
NM_023110.2(FGFR1):c.-751C>T rs2445003
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2278T>C (p.Leu760=) rs201490643
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) rs55642501
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.336C>T (p.Thr112=) rs148480919
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.375G>A (p.Ser125=) rs17182296
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.