List of variants reported by Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin

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		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter)	rs1114167445	0.00001
NM_199334.5(THRA):c.518A>G (p.Glu173Gly)	rs1987264133	0.00001
NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)	rs1888700304
NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	rs757446033
NM_020971.3(SPTBN4):c.1149dup (p.Asn384fs)	rs2080274080
NM_020971.3(SPTBN4):c.1249del (p.Leu417fs)	rs2080278571
NM_020971.3(SPTBN4):c.3375_3393del (p.Asp1126fs)	rs2080505282
NM_020971.3(SPTBN4):c.737G>C (p.Arg246Pro)	rs370960966
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	rs370717845

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