List of variants reported as pathogenic for Joubert syndrome with ocular defect by Fulgent Genetics, Fulgent Genetics

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	rs777668842	0.00012
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	rs372659908	0.00003
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	rs547352656	0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	rs765263671	0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)	rs1445681647	0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	rs863225138	0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	rs121918204	0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	rs778533826	0.00002
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	rs863225143	0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	rs267606641	0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	rs751734985	0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	rs201391050	0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	rs145665129	0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)	rs371637724
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	rs778149316
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044

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