ClinVar Miner

List of variants in gene combination BRCA1, LOC126862571 reported as pathogenic for reproductive system disorder

Included ClinVar conditions (663):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter) rs80357402
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter) rs397507215
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs) rs80357828
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3621del (p.Lys1208fs) rs1555587401
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3751_3769del (p.Cys1251fs) rs1567790190
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678

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