List of variants reported as likely pathogenic for Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly by Invitae

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.411-1486G>A	rs982449380	0.00003
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)	rs772739103	0.00002
NM_001329943.3(KIAA0586):c.1885-2A>G	rs1431898844	0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C	rs372841738	0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C	rs1331480187	0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G	rs763815640	0.00001
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NM_001329943.3(KIAA0586):c.-29A>C	rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A	rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A	rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del	rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T

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