ClinVar Miner

List of variants reported as benign by IntelligeneCG

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.02098
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn) rs659243
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917

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