List of variants reported as uncertain significance for Revesz syndrome by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001099274.3(TINF2):c.-233T>G	rs868258192	0.00030
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	rs779819186	0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)	rs779837822	0.00004
NM_001099274.3(TINF2):c.-277C>G	rs886050435	0.00003
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)	rs377436580	0.00001
NM_001099274.3(TINF2):c.*53G>A	rs886050429
NM_001099274.3(TINF2):c.-130A>G	rs2040602733
NM_001099274.3(TINF2):c.-223C>G	rs886050434
NM_001099274.3(TINF2):c.-50A>G	rs886050432
NM_001099274.3(TINF2):c.-93T>C	rs886050433
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)	rs886050430
NM_001099274.3(TINF2):c.400-5del	rs769170035
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)	rs2040569011
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg)	rs2040562236
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)	rs886050431
NM_012461.3(TINF2):c.-316G>A	rs886050436

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