ClinVar Miner

List of variants reported as not provided for not provided by Richard Lifton Laboratory, Yale University School of Medicine

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042603.3(KDM5A):c.4522C>T (p.Arg1508Trp) rs367537993 0.00002
NM_017588.3(WDR5):c.19A>C (p.Lys7Gln) rs367537994 0.00001
NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr) rs367537996
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.997+1G>A rs367537999
NM_006618.5(KDM5B):c.1701+1G>A rs367537995
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_019592.7(RNF20):c.247C>T (p.Gln83Ter) rs367537997
NM_032147.5(USP44):c.213G>T (p.Glu71Asp) rs11548854

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