ClinVar Miner

List of variants reported as likely pathogenic for not specified by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) rs397508190
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs) rs1562929573
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000546.6(TP53):c.557_559+2delinsGGGG rs1567552467
NM_000546.6(TP53):c.559+2del rs1567552459
NM_000546.6(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_004093.4(EFNB2):c.219T>G (p.Tyr73Ter) rs1879182475
NM_005269.3(GLI1):c.1796del (p.Gly599fs) rs758888293
NM_007103.4(NDUFV1):c.155+1G>A rs1565224383

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