ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118 0.00001
NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del) rs2144003808
NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)
NM_001267550.2(TTN):c.3729+1G>A rs781562337
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)
NM_001267550.2(TTN):c.9703+1G>A
NM_001967.4(EIF4A2):c.1091G>A (p.Gly364Glu) rs2108464046
NM_004360.5(CDH1):c.1679_1680insT (p.Tyr561fs)
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_015015.3(KDM4B):c.3284C>T (p.Pro1095Leu) rs920029769
NM_015450.3(POT1):c.910dup (p.Asp304fs)
NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400

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