ClinVar Miner

List of variants studied for Imerslund-Grasbeck syndrome by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 86
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HGVS dbSNP
NC_000014.8:g.(?_103336519)_(103397037_?)del
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
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)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
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.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_030943.3(AMN):c.844-1G>C
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)

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