ClinVar Miner

List of variants reported as uncertain significance for Imerslund-Grasbeck syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys) rs756614749
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala) rs141089159
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln) rs770625165
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg) rs200383906
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu) rs757185023
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu) rs142292210
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala) rs201138390
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys) rs139369652
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile) rs776108051
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met) rs140202552
NM_001081.3(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr) rs1413359792
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro) rs752992672
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro) rs769747844
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val) rs749282139
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe) rs1588623068
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr) rs569915247
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp) rs746114034
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr)
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln)
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys)
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln)
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser)
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg)
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr)
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp)
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser)
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met)
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr)
NM_001081.4(CUBN):c.6125-2A>G rs75386064
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del)
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu)
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg)
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.989C>A (p.Ala330Glu) rs542237999
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)

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