List of variants studied for Joubert syndrome 14 by UW Hindbrain Malformation Research Program, University of Washington

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_001044385.3(TMEM237):c.943+1G>T	rs748510210	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_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	rs145665129	0.00001
2q13 deletion
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)	rs387907131
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)	rs863225217
NM_015272.5(RPGRIP1L):c.1243+1G>A	rs863225218
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	rs863225216
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	rs267607020
NM_015272.5(RPGRIP1L):c.2305-1G>A	rs863225215
NM_015272.5(RPGRIP1L):c.3701+1G>T	rs863225219

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