List of variants reported as uncertain significance for autosomal recessive disease by CFTR2

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.164+28A>G	rs34010645	0.00589
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00046
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)	rs201759207	0.00029
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)	rs142773283	0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	rs149353983	0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002

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