ClinVar Miner

List of variants reported for not specified by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_002880.4(RAF1):c.208-17T>C rs3730268 0.00529
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_033360.4(KRAS):c.*37A>G rs730880380

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