ClinVar Miner

List of variants in gene IKZF1 studied for hematopoietic and lymphoid cell neoplasm

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006060.6(IKZF1):c.851-1312A>G rs11978267 0.24681
NM_006060.6(IKZF1):c.*2279T>G rs4132601 0.24508
NM_006060.6(IKZF1):c.398T>C (p.Met133Thr) rs764847531 0.00006
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) rs937630364 0.00001
NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn) rs2153518093
NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr)
NM_006060.6(IKZF1):c.1193C>T (p.Thr398Met)
NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu)
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)
NM_006060.6(IKZF1):c.161-8275C>T
NM_006060.6(IKZF1):c.161-8401C>T
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) rs2153469119
NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847

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