ClinVar Miner

List of variants in gene UBE2A reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003336.4(UBE2A):c.-4C>T rs1569405231
NM_003336.4(UBE2A):c.101T>C (p.Met34Thr)
NM_003336.4(UBE2A):c.142T>A (p.Phe48Ile)
NM_003336.4(UBE2A):c.169A>G (p.Ile57Val)
NM_003336.4(UBE2A):c.242T>A (p.Val81Asp) rs2053457048
NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp) rs767224681

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