ClinVar Miner

List of variants reported as benign for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15833
NM_016277.5(RAB23):c.*3330A>G rs72868608 0.14761
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_016277.5(RAB23):c.*2425G>A rs62415930 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_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
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_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
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_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_016277.5(RAB23):c.-23C>T rs145059995 0.00424
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_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
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_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 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_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_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.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 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.333C>T (p.Ile111=)
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.7136+12C>T rs375712517
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

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