ClinVar Miner

List of variants reported as benign by Genetics and Molecular Pathology, SA Pathology

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.2608-147C>T rs11238441 0.17019
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001481.3(GAS8):c.833G>A (p.Arg278His) rs117053233 0.00781
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_032492.4(JAGN1):c.*9T>C rs11554811

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