List of variants reported as likely pathogenic for autosomal recessive disease by New York Genome Center

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	rs115209243	0.00031
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_006618.5(KDM5B):c.2474+1G>A	rs542983923	0.00009
NM_018451.5(CENPJ):c.1696C>T (p.Arg566Ter)	rs138228629	0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	rs752140135	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_001194998.2(CEP152):c.972+2T>A	rs766194658	0.00004
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)	rs369776766	0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_000254.3(MTR):c.1812+1G>A	rs778242201	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	rs989080548	0.00001
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)	rs62507282
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_001134831.2(AHI1):c.430del (p.Glu144fs)	rs2128098409
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs)	rs2145479688
NM_006846.4(SPINK5):c.1280del (p.Ser427fs)	rs1753640069
NM_006895.3(HNMT):c.475del (p.His159fs)	rs765863580
NM_015275.3(WASHC4):c.1038+1G>T	rs1881282106
NM_018230.3(NUP133):c.2992dup (p.Gln998fs)	rs1660478193
NM_018294.6(CWF19L1):c.942del (p.Pro315fs)	rs749679347
NM_022124.6(CDH23):c.7225-1G>A	rs1064795722
NM_033629.6(TREX1):c.23dup (p.Pro10fs)	rs781731683
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)	rs1401715737

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