List of variants studied for autosomal recessive disease by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_000492.4(CFTR):c.*94C>T	rs144214399	0.00051
NM_000163.5(GHR):c.718T>C (p.Tyr240His)	rs143814221	0.00024
NM_000163.5(GHR):c.703C>T (p.Arg235Ter)	rs121909363	0.00008
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)	rs121909359	0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His)	rs121909366	0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000163.5(GHR):c.12G>C (p.Trp4Cys)	rs1554020272
NM_000163.5(GHR):c.364T>C (p.Trp122Arg)	rs190314158
NM_000163.5(GHR):c.945G>A (p.Lys315=)	rs1554040858
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)	rs1554381605
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	rs397508173
NM_000492.4(CFTR):c.1373del (p.Gly458fs)	rs397508196
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)	rs397508316
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)	rs397508404
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)	rs1562654527
NM_003630.3(PEX3):c.942-8T>G	rs267608193
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)	rs1553211899
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)	rs761957186
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)	rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)	rs1557894839

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