ClinVar Miner

List of variants studied for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP
MEGF8, GLY199ARG
NC_000019.9:g.(?_42874853)_(42874983_?)del
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1391-3C>T
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu)
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu)
NM_001271938.2(MEGF8):c.352-4G>A rs143955737
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119
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.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr)
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val)
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met)
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.7089C>T (p.Cys2363=) rs138235390
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=) rs775919574
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala)
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln)
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp)
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663
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.8487G>A (p.Ala2829=)
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)
NM_001410.3(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_016277.5(RAB23):c.*1180_*1183ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1251G>A rs182662
NM_016277.5(RAB23):c.*1312A>G rs11398
NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651
NM_016277.5(RAB23):c.*416G>C rs1411578
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.*722T>C rs143345846
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*811G>A rs16888378
NM_016277.5(RAB23):c.*920C>G rs530900959
NM_016277.5(RAB23):c.*984G>A rs148372304
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171
NM_016277.5(RAB23):c.481+5A>G rs150762175
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.5del (p.Leu2fs)
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_183227.2(RAB23):c.242-15_242-12dupATTG rs45542438
RAB23, 1-BP DUP, 86A
RAB23, 1-BP INS, 408T

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