List of variants reported as benign for acrocephalopolysyndactyly by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)	rs28621009	0.14431
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	rs1040461	0.11850
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)	rs1206038	0.08528
NM_001271938.2(MEGF8):c.1934-7T>C	rs1206044	0.08176
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)	rs61995685	0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)	rs149155949	0.04455
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=)	rs35473255	0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)	rs116630802	0.03297
NM_001271938.2(MEGF8):c.1933+13A>G	rs139484187	0.02617
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=)	rs10425783	0.02385
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)	rs112167630	0.01684
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=)	rs28483598	0.01653
NM_001271938.2(MEGF8):c.3351-3C>T	rs10411498	0.01637
NM_023110.3(FGFR1):c.2187-6C>T	rs4647904	0.01503
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=)	rs78335246	0.01393
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=)	rs115335139	0.01335
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)	rs56234888	0.01307
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=)	rs35468447	0.01216
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=)	rs150535071	0.00974
NM_001271938.2(MEGF8):c.6641+15G>A	rs118098511	0.00926
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys)	rs11881304	0.00870
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	rs17175898	0.00782
NM_001271938.2(MEGF8):c.5011+15C>T	rs78233194	0.00745
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	rs56341011	0.00711
NM_001271938.2(MEGF8):c.5489-16C>T	rs35875097	0.00707
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=)	rs62648096	0.00664
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=)	rs115428796	0.00640
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)	rs115536529	0.00618
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)	rs149279834	0.00602
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	rs45479896	0.00589
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)	rs2915665	0.00567
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=)	rs576629405	0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly)	rs537269414	0.00506
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=)	rs112433681	0.00470
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=)	rs138473998	0.00407
NM_001271938.2(MEGF8):c.352-4G>A	rs143955737	0.00396
NM_001271938.2(MEGF8):c.5488+12T>C	rs188285054	0.00284
NM_001271938.2(MEGF8):c.6481+11T>G	rs138919410	0.00270
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln)	rs149787596	0.00266
NM_001271938.2(MEGF8):c.5721-10T>C	rs188531875	0.00240
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=)	rs139648725	0.00193
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=)	rs145886667	0.00177
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=)	rs3745237	0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	rs148480919	0.00153
NM_001271938.2(MEGF8):c.6641+9G>A	rs112519292	0.00145
NM_001271938.2(MEGF8):c.4504-14G>A	rs111624233	0.00124
NM_023110.3(FGFR1):c.449-9C>G	rs17182303	0.00115
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=)	rs373759775	0.00097
NM_023110.3(FGFR1):c.1081+20C>T	rs17175982	0.00092
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)	rs56174879	0.00079
NM_023110.3(FGFR1):c.1855-16C>T	rs371160786	0.00071
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=)	rs146885610	0.00066
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=)	rs34225188	0.00052
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)	rs141153248	0.00051
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)	rs117439608	0.00048
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)	rs140382957	0.00043
NM_023110.3(FGFR1):c.1854+19C>T	rs199830036	0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	rs201490643	0.00041
NM_023110.3(FGFR1):c.1553-13G>A	rs17182414	0.00040
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)	rs143508185	0.00037
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	rs150652786	0.00034
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	rs374507681	0.00029
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)	rs144131616	0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)	rs55642501	0.00016
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=)	rs199681302	0.00011
NM_023110.3(FGFR1):c.75G>A (p.Pro25=)	rs17175757	0.00010
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=)	rs375943387	0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=)	rs17182296	0.00009
NM_001271938.2(MEGF8):c.2919C>T (p.His973=)	rs766105588	0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile)	rs77422116	0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	rs746123129	0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)	rs552562422	0.00008
NM_023110.3(FGFR1):c.359-13C>G	rs376369060	0.00007
NM_023110.3(FGFR1):c.1285-15C>T	rs760069564	0.00006
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=)	rs746659886	0.00005
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=)	rs200526872	0.00005
NM_016277.5(RAB23):c.534T>C (p.Ala178=)	rs201820320	0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)	rs56273573	0.00004
NM_023110.3(FGFR1):c.449-8C>A	rs551551806	0.00004
NM_023110.3(FGFR1):c.92-14C>T	rs547772178	0.00004
NM_023110.3(FGFR1):c.448+20C>T	rs767029419	0.00002
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=)	rs540512909	0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=)	rs369967292	0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=)	rs201735614	0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	rs546318124	0.00001
NM_023110.3(FGFR1):c.359-7C>T	rs749216266	0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)	rs17175750	0.00001
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=)	rs149190709
NM_001271938.2(MEGF8):c.2299-15_2299-12del	rs141582110
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)	rs547635717
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
NM_001271938.2(MEGF8):c.828+11del	rs2147449280
NM_016277.5(RAB23):c.242-31ATTG[6]	rs45542438
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.481+17G>A
NM_023110.3(FGFR1):c.1430+7_1430+9del	rs772340109
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)

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.