ClinVar Miner

List of variants reported as association for not provided

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000066.4(C8B):c.1144G>T (p.Asp382Tyr) rs139498867 0.00442
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002348.4(LY9):c.182del (p.Gly61fs)
NM_004108.3(FCN2):c.932G>A (p.Arg311Gln)
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?) rs77179853
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401

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