ClinVar Miner

List of variants studied for breast cancer by GeneDx

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer) rs730881620 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000059.3:c.1-59_1-57delGAA
NM_000059.3:c.3847_3848delTG rs80359405
NM_000059.4(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer) rs80359266
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs) rs730881608
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs) rs80359498
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs) rs587779364
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer) rs730881611
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs) rs730881612
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_007294.3(BRCA1):c.135-?_441+?del
NM_007294.3(BRCA1):c.302-?_441+?(2)
NM_007294.3(BRCA1):c.4186-?_4675+?del
NM_007294.3(BRCA1):c.4186-?_4986+?del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.4485-?_4986+?del
NM_007294.3(BRCA1):c.4987-?_5074+?del
NM_007294.3(BRCA1):c.548-?_5193+?del
NM_007294.3(BRCA1):c.?-232_4484+?del
NM_007294.3:c.134+19insT
NM_007294.3:c.1363insT
NM_007294.3:c.3764insA
NM_007294.3:c.441+6insA
NM_007294.4(BRCA1):c.1952del (p.Lys651fs) rs80357885
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp) rs730881483
NM_007294.4(BRCA1):c.2938del (p.Ile980fs) rs730881439
NM_007294.4(BRCA1):c.441+17del rs730881449
NM_007294.4(BRCA1):c.441+18CTT[6] rs147856441

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