ClinVar Miner

List of variants reported as likely benign for Familial cancer of breast by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3993+133A>G rs142220799 0.00855
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_003620.4(PPM1D):c.1017+51A>G rs144142345 0.00301
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_005732.4(RAD50):c.1932G>A (p.Arg644=) rs375978877 0.00004
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000465.4(BARD1):c.531A>G (p.Gln177=) rs774050888 0.00002
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000465.4(BARD1):c.1695T>C (p.Arg565=) rs569636814 0.00001
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=) rs758026288 0.00001
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=) rs375911315 0.00001
NM_000051.4(ATM):c.2922-17T>G
NM_000051.4(ATM):c.2922-18T>G
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.497-15T>A
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg) rs730881415
NM_005732.4(RAD50):c.102G>A (p.Leu34=) rs876659395
NM_005732.4(RAD50):c.3195C>T (p.Asp1065=) rs786201980
NM_032043.3(BRIP1):c.1623T>C (p.Asn541=) rs786203897
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=) rs1555590464
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=) rs767666616

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