ClinVar Miner

List of variants reported as likely pathogenic by Academic Department of Medical Genetics, University of Cambridge

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Total variants: 23
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HGVS dbSNP
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter) rs756653193
NM_001042492.3(NF1):c.4621del (p.Thr1541fs) rs1597748749
NM_001042492.3(NF1):c.7769dup (p.His2590fs) rs1597866378
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_004064.5(CDKN1B):c.151_152del (p.Asp51fs) rs1592280833
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522

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