List of variants reported as pathogenic for autosomal recessive disease by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.*97G>A	rs1799963	0.00979
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	rs766420907	0.00006
NM_000297.4(PKD2):c.670del (p.Leu224fs)	rs1553924173
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)	rs1555453872
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	rs587778541
NM_001048174.2(MUTYH):c.1393-51_*2del
Single allele

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