List of variants reported as likely benign for Joubert syndrome 14 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.*3124A>T	rs79378497	0.01390
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)	rs139974543	0.00854
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	rs146902870	0.00702
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	rs144313291	0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	rs79708859	0.00517
NM_001044385.3(TMEM237):c.80-11T>C	rs76296365	0.00503
NM_001044385.3(TMEM237):c.*3453T>G	rs77771615	0.00420
NM_001044385.3(TMEM237):c.*2137A>G	rs115353606	0.00418
NM_001044385.3(TMEM237):c.*2349C>T	rs74884418	0.00418
NM_001044385.3(TMEM237):c.*3372C>T	rs192214909	0.00418
NM_001044385.3(TMEM237):c.*1107C>T	rs143516209	0.00417
NM_001044385.3(TMEM237):c.*1975C>G	rs142233268	0.00417
NM_001044385.3(TMEM237):c.*2719G>A	rs142852956	0.00417
NM_001044385.3(TMEM237):c.*2180G>A	rs77649251	0.00416
NM_001044385.3(TMEM237):c.*1588G>A	rs150141936	0.00396
NM_001044385.3(TMEM237):c.*2431T>G	rs142355657	0.00379
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)	rs190983114	0.00366
NM_001044385.3(TMEM237):c.*2480T>G	rs75655554	0.00337
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	rs140067659	0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	rs146197239	0.00244
NM_001044385.3(TMEM237):c.136+8G>A	rs200618675	0.00220
NM_001044385.3(TMEM237):c.*439G>A	rs139374574	0.00208
NM_001044385.3(TMEM237):c.*634C>T	rs139016907	0.00207
NM_001128178.3(NPHP1):c.771+59G>A	rs143174377	0.00203
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)	rs61742381	0.00195
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	rs139503476	0.00157
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)	rs149240122	0.00111
NM_015272.5(RPGRIP1L):c.*1033G>A	rs145688122	0.00032
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)	rs141979202	0.00021
NM_001128178.3(NPHP1):c.-17G>A	rs566875282	0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)	rs548684868	0.00001
NM_001044385.3(TMEM237):c.*2142G>C	rs76042698
NM_001044385.3(TMEM237):c.-25G>A	rs568671275

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