List of variants studied for aorta coarctation

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	rs149739570	0.00005
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	rs193922829	0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	rs560246798	0.00001
46;XY;t(1;5)(p35.3;q31.3)dn
46;XY;t(2;14)(p22;q24.3)dn
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
GRCh37/hg19 9q34.3(chr9:139284464-141018984)
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)	rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)	rs1600181733
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)	rs1555827789
NM_000214.3(JAG1):c.439+1G>A	rs863223648
NM_001042492.3(NF1):c.1260+5G>A	rs1060500253
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.4577+1G>A	rs1279529138
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)	rs878853900
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)	rs768740459
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys)	rs1598738032
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	rs749541061

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