ClinVar Miner

List of variants reported as pathogenic by Molecular Medicine, University of Pavia

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)
NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)
NM_001291867.2(NHS):c.853-2A>C
NM_001368894.2(PAX6):c.1A>G (p.Met1Val) rs1131692284
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) rs121907913
NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter) rs369015359
NM_005869.4(CWC27):c.669+1G>A
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
NM_014290.3(TDRD7):c.2660del (p.Lys887fs)
NM_016614.3(TDP2):c.636+3_636+6del rs1240335250

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