List of variants studied for autosomal recessive disease by Genomic Medicine Lab, University of California San Francisco

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)	rs757541406	0.00010
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)	rs769926034	0.00004
NM_022095.4(ZNF335):c.1856G>A (p.Arg619His)	rs555774487	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_001044385.3(TMEM237):c.943+1G>T	rs748510210	0.00002
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	rs200923373	0.00001
NM_001080510.5(METTL23):c.407+6T>C	rs1373087430	0.00001
NM_018131.5(CEP55):c.1373A>G (p.His458Arg)	rs753355777	0.00001
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly)	rs766211518
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)	rs2116094537
NM_001044385.3(TMEM237):c.869+1del	rs1311551510
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)	rs746453662
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu)	rs199688655
NM_005529.7(HSPG2):c.1A>G (p.Met1Val)	rs2152809610
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	rs1672558841
NM_014009.4(FOXP3):c.648-2A>G	rs2147947553
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)	rs146596670
NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter)	rs1600517442
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile)	rs745702205
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs)	rs1869579851

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