ClinVar Miner

List of variants in gene CDH1 studied for Familial cancer of breast; Ovarian cancer

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.68835546A>G rs8045438 0.98944
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00023
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.1711+9G>A rs368770384 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn) rs200104963 0.00009
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.918C>T (p.Ser306=) rs761516528 0.00004
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys) rs587781701 0.00003
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr) rs376854556 0.00003
NM_004360.5(CDH1):c.2514C>T (p.Ser838=) rs770974998 0.00003
NM_004360.5(CDH1):c.753G>A (p.Thr251=) rs371996897 0.00003
NM_004360.5(CDH1):c.1017T>C (p.Pro339=) rs746639322 0.00002
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn) rs587781696 0.00002
NM_004360.5(CDH1):c.2079C>T (p.Gly693=) rs771993728 0.00002
NM_004360.5(CDH1):c.2157T>G (p.Ala719=) rs762224244 0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647 0.00002
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00002
NM_004360.5(CDH1):c.636A>G (p.Gly212=) rs758991562 0.00002
NM_004360.5(CDH1):c.906C>T (p.Tyr302=) rs370197479 0.00002
NM_004360.5(CDH1):c.1008+4del rs746392709 0.00001
NM_004360.5(CDH1):c.1009-14C>T rs368293695 0.00001
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu) rs876659333 0.00001
NM_004360.5(CDH1):c.185G>T (p.Gly62Val) rs786203727 0.00001
NM_004360.5(CDH1):c.2295+14A>G rs1024244866 0.00001
NM_004360.5(CDH1):c.306C>A (p.Ala102=) rs772779133 0.00001
NM_004360.5(CDH1):c.627A>G (p.Arg209=) rs371601956 0.00001
NM_004360.5(CDH1):c.724G>A (p.Val242Ile) rs111662525 0.00001
NM_004360.5(CDH1):c.832+9A>T rs1057521268 0.00001
NC_000016.10:g.68833290_68833501del
NC_000016.9:g.(?_68771319)_(68849662_?)dup
NM_004360.5(CDH1):c.1008+8G>T rs990193541
NM_004360.5(CDH1):c.1065A>G (p.Leu355=)
NM_004360.5(CDH1):c.1107C>T (p.Asn369=) rs786201189
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.113C>T (p.Thr38Met) rs587778171
NM_004360.5(CDH1):c.1170CGT[1] (p.Val392del) rs1555515872
NM_004360.5(CDH1):c.1228G>C (p.Glu410Gln) rs187906987
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys) rs187862045
NM_004360.5(CDH1):c.1376T>C (p.Val459Ala) rs1555516109
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
NM_004360.5(CDH1):c.1526C>T (p.Thr509Ile) rs771551231
NM_004360.5(CDH1):c.1565+13A>G rs1057522979
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1633C>G (p.Arg545Gly) rs863224727
NM_004360.5(CDH1):c.1711+9G>C rs368770384
NM_004360.5(CDH1):c.1712-14G>A rs2152138120
NM_004360.5(CDH1):c.173A>T (p.Glu58Val) rs786202570
NM_004360.5(CDH1):c.183C>T (p.Thr61=) rs575896144
NM_004360.5(CDH1):c.1922A>G (p.Gln641Arg) rs876660113
NM_004360.5(CDH1):c.1950C>T (p.Ile650=) rs786202320
NM_004360.5(CDH1):c.2076_2080delinsCGGCA (p.Val694Ile)
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile) rs587780118
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2166_2295del (p.Ile722fs)
NM_004360.5(CDH1):c.2199G>C (p.Arg733Ser) rs1555517637
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser) rs773795943
NM_004360.5(CDH1):c.2280C>A (p.Gly760=) rs768547540
NM_004360.5(CDH1):c.2324G>A (p.Gly775Asp) rs778581202
NM_004360.5(CDH1):c.2375T>C (p.Met792Thr) rs752349229
NM_004360.5(CDH1):c.2413_2414delinsAG (p.Asp805Ser) rs1961433417
NM_004360.5(CDH1):c.263C>G (p.Pro88Arg) rs1381409755
NM_004360.5(CDH1):c.270G>A (p.Arg90=) rs777822181
NM_004360.5(CDH1):c.272T>A (p.Phe91Tyr)
NM_004360.5(CDH1):c.36G>A (p.Leu12=)
NM_004360.5(CDH1):c.417G>A (p.Leu139=) rs1057521858
NM_004360.5(CDH1):c.45G>A (p.Leu15=) rs746331438
NM_004360.5(CDH1):c.546A>G (p.Lys182=) rs201141645
NM_004360.5(CDH1):c.612C>A (p.Val204=)
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr) rs786203207
NM_004360.5(CDH1):c.7C>A (p.Pro3Thr) rs1064793079
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn) rs876660645

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