ClinVar Miner

List of variants in gene NIPBL reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.5863-30A>G rs199888273 0.00781
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr) rs138514909 0.00043
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130 0.00009
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 0.00002
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.123C>T (p.Leu41=) rs774269226 0.00001
NM_133433.4(NIPBL):c.2910T>C (p.Thr970=) rs1045615108 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3574+20A>C rs530238141 0.00001
NM_133433.4(NIPBL):c.4087+9G>A rs757255852 0.00001
NM_133433.4(NIPBL):c.4561-10T>C rs763125929 0.00001
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
NM_133433.4(NIPBL):c.1413G>A (p.Leu471=)
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
NM_133433.4(NIPBL):c.2424A>G (p.Arg808=)
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr)
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) rs140344071
NM_133433.4(NIPBL):c.3540A>G (p.Lys1180=)
NM_133433.4(NIPBL):c.3575-9C>G
NM_133433.4(NIPBL):c.3855+8T>G
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5241T>G (p.Thr1747=)
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5863-23_5863-2del
NM_133433.4(NIPBL):c.5863-32G>A
NM_133433.4(NIPBL):c.618A>G (p.Val206=)
NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=)
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.7098G>A (p.Gln2366=)
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
NM_133433.4(NIPBL):c.732T>C (p.Ser244=)
NM_133433.4(NIPBL):c.7485A>G (p.Glu2495=)
NM_133433.4(NIPBL):c.7686-8C>A
NM_133433.4(NIPBL):c.7882C>T (p.Leu2628=)
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064

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