List of variants reported as uncertain significance for Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)	rs762456224	0.00035
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)	rs200018416	0.00031
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp)	rs368982201	0.00022
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro)	rs201648505	0.00018
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp)	rs61759892	0.00016
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu)	rs944826681	0.00010
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln)	rs931761657	0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg)	rs769977498	0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys)	rs201301365	0.00009
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp)	rs200002105	0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp)	rs750304658	0.00008
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys)	rs746005466	0.00007
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg)	rs201763704	0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys)	rs763078132	0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys)	rs540719285	0.00006
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln)	rs184775551	0.00005
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp)	rs555407951	0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His)	rs781121286	0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp)	rs377173936	0.00004
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys)	rs747237323	0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu)	rs772265082	0.00003
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys)	rs772515188	0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala)	rs370863264	0.00002
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp)	rs772074149	0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr)	rs1351785836	0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp)	rs753536598	0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His)	rs374254271	0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg)	rs373588660	0.00001
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg)	rs376652305
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)	rs1828015944
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro)	rs563222200
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)	rs772168426
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys)	rs1586826374

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