List of variants reported as pathogenic by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	rs119455956	0.00001
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)	rs376815626	0.00001
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001271.4(CHD2):c.1053-1G>C	rs2141790977
NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter)	rs2145443002
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs)	rs2128210848
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)	rs2109029867
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)	rs2109077865
NM_004187.5(KDM5C):c.2517_2622del	rs2146844343
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)	rs397507476
NM_012064.4(MIP):c.508dup (p.Leu170fs)	rs1057519616
NM_016373.4(WWOX):c.854del (p.Asn285fs)	rs1394607357
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter)	rs878853055

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