ClinVar Miner

List of variants reported as uncertain significance for hereditary intrinsic factor deficiency by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) rs139090732 0.00068
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) rs201871926 0.00045
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
NM_005142.3(CBLIF):c.79+3G>A rs146396839 0.00012
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) rs150005713 0.00008
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) rs771992791 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) rs767310648 0.00002
NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg) rs1460997213 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) rs148989677
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
NM_005142.3(CBLIF):c.371-4G>A
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) rs1866468089
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) rs756139879
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)

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