ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) rs769240800 0.00001
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.8408del (p.Lys2803fs) rs1591249359
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_002382.5(MAX):c.1A>G (p.Met1Val) rs387906649
NM_002382.5(MAX):c.289C>T (p.Gln97Ter) rs1167538050
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
Single allele

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