ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2437_2444del (p.Ile813fs) rs2072457571
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs) rs398122556
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6682dup (p.Val2228fs) rs80359621
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.67+1G>T rs81002796
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7543del (p.Thr2515fs) rs80359657
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8800del (p.Gln2934fs) rs886040793
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) rs2072903033
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.89_90insGT (p.Asn30fs) rs2072284385
NM_000059.4(BRCA2):c.92_93insAA (p.Trp31Ter) rs2072284495
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter) rs80359210
NM_000059.4(BRCA2):c.9455_9456del (p.Glu3152fs) rs80359764
NM_000059.4(BRCA2):c.9455_9456dup (p.Gly3153fs) rs80359764

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