List of variants reported as uncertain significance for pulmonary fibrosis and/or bone marrow failure, telomere-related by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu)	rs143461704	0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile)	rs190297758	0.00040
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln)	rs375593361	0.00006
NM_002582.4(PARN):c.407A>T (p.Gln136Leu)	rs374762200	0.00005
NM_017612.5(ZCCHC8):c.1487C>T (p.Thr496Ile)	rs369211892	0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	rs772441504	0.00005
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met)	rs778675789	0.00004
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His)	rs369014080	0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser)	rs550764571	0.00003
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val)	rs762936013	0.00001
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp)	rs1003156687	0.00001
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys)	rs2090684972	0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys)	rs761902346	0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)	rs757655633	0.00001
NM_002582.4(PARN):c.245A>G (p.Lys82Arg)	rs201235100	0.00001
NM_017612.5(ZCCHC8):c.1370A>T (p.Gln457Leu)	rs564778717	0.00001
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln)	rs1579564912	0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	rs1169312254	0.00001
NR_001566.3(TERC):n.36C>T	rs1248582778	0.00001
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del)	rs779176651
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His)	rs534046818
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg)	rs749331637
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
NM_002582.4(PARN):c.39C>G (p.His13Gln)	rs2151826881
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu)	rs1060503002
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn)	rs1579574994
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly)	rs1751266537
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met)	rs1579541689

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