ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.316+1G>A rs397507303
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.476-1G>T
NM_000059.4(BRCA2):c.5049_5053del (p.Gln1683fs) rs2137513400
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6864dup (p.Leu2290fs)
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) rs1555285146
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.4(BRCA2):c.7007+1G>A rs397507891
NM_000059.4(BRCA2):c.7007+2T>G rs886040937
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7977-1G>T rs81002874
NM_000059.4(BRCA2):c.7977-3_7977-1delinsAA rs483353073
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) rs80359035
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8754+1G>C rs397508006
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8953+1G>A rs81002882
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9256+2T>C rs1555288591
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9501+1dup rs2073025642
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9588del (p.Asp3197fs) rs876661285
NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs) rs1593201647
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs) rs398122622
NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs) rs1566261091
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) rs80359247

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