ClinVar Miner

List of variants in gene KMT2A reported as not provided for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.7556G>A (p.Arg2519Gln) rs183240996 0.00001
NM_001197104.2(KMT2A):c.10292_10296dup (p.Pro3433fs) rs2134411495
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser) rs1555036397
NM_001197104.2(KMT2A):c.2522del (p.Pro841fs) rs1949984032
NM_001197104.2(KMT2A):c.2958_2959insGTTG (p.Lys987fs) rs2134272679
NM_001197104.2(KMT2A):c.8823T>A (p.Ser2941Arg)

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