List of variants studied for autosomal recessive disease by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)	rs189438534	0.00147
NM_001543.5(NDST1):c.239G>A (p.Arg80His)	rs145390254	0.00145
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)	rs41299625	0.00095
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn)	rs779298195	0.00003
NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu)	rs779515686	0.00001
NM_001543.5(NDST1):c.39C>G (p.His13Gln)	rs777877507
NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys)	rs1334824087
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu)	rs1560975832
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs)	rs1064795945
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)	rs757511770
Single allele

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