ClinVar Miner

List of variants studied for cardiofaciocutaneous syndrome 2

Included ClinVar conditions (6):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.175_176delinsTT (p.Ala59Leu)
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) rs2135806003
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206

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