ClinVar Miner

List of variants reported as pathogenic by Academic Center for Education, Culture and Research, Motamed Cancer Institute

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.231_252del (p.Pro78fs) rs1566215948
NM_000059.4(BRCA2):c.925del (p.Ser309fs) rs886038058
NM_000257.4(MYH7):c.1963C>A (p.Leu655Met) rs1595084583
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000455.5(STK11):c.152dup (p.Met51fs) rs1568690161
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.919+2T>A rs1131691016
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007294.4(BRCA1):c.1568del (p.Leu523fs) rs1555591543
NM_007294.4(BRCA1):c.2255_2259del (p.Leu752fs) rs1567796377
NM_007294.4(BRCA1):c.4185+1del rs1567788168
NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg) rs1555979575
NM_033031.3(CCNB3):c.3752T>A (p.Val1251Asp) rs1602253764

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