List of variants studied for autosomal recessive disease by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser)	rs147101055	0.00615
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)	rs148808080	0.00050
NM_001048174.2(MUTYH):c.850-2A>G	rs77542170	0.00035
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_005379.4(MYO1A):c.640+1G>C	rs199924915	0.00003
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	rs200495564	0.00002
NM_005379.4(MYO1A):c.1011+2T>G	rs875989945
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)	rs151187460
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	rs121909305
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600

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