ClinVar Miner

List of variants reported as benign for Familial melanoma by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_058195.4(CDKN2A):c.193+9477T>G rs3731217 0.12347
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00004
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000075.4(CDK4):c.355-12del
NM_000075.4(CDK4):c.820-5del rs1555201035
NM_000077.5(CDKN2A):c.361C>T (p.Leu121=) rs142371511
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.83T>G (p.Val28Gly) rs775176191

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