List of variants reported as uncertain significance for Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)	rs199695154	0.00039
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)	rs201954181	0.00026
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)	rs747204358	0.00021
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)	rs368180778	0.00014
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)	rs375247004	0.00006
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)	rs370014549	0.00004
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)	rs1718235188	0.00002
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)	rs372873919	0.00001
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)	rs16892095
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)	rs747187783
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT	rs750398145
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)	rs764874938

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