ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3367+45T>C rs369353024 0.00010
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) rs1800116 0.00005
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3007G>A (p.Gly1003Arg)
NM_000492.4(CFTR):c.3040_3042del (p.Tyr1014del) rs1584821602
NM_000492.4(CFTR):c.3139+25C>T
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486

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