List of variants reported by Nemer Genomics and Translation Biomedicine Lab, American University of Beirut

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)	rs587782931	0.00003
NM_001098672.2(HEPHL1):c.3280C>T (p.Arg1094Ter)	rs546075822	0.00001
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu)	rs756923654	0.00001
NM_005546.4(ITK):c.1562C>T (p.Pro521Leu)	rs759932471	0.00001
NM_001453.3(FOXC1):c.1450C>T (p.His484Tyr)	rs2113114864
NM_001793.6(CDH3):c.665_666dup (p.Ser223fs)	rs2152100234
NM_003076.5(SMARCD1):c.1051C>T (p.Arg351Cys)	rs1253128772
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	rs28931594
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly)	rs587782928
NM_004387.4(NKX2-5):c.618del (p.Leu207fs)	rs587782929
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)	rs587782930
NM_014339.7(IL17RA):c.1173C>G (p.Tyr391Ter)	rs761716238
NM_147686.4(TRAF3IP2):c.1286C>A (p.Thr429Asn)	rs1583223171

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