List of variants in gene MCIDAS reported as likely benign for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 76

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HGVS	dbSNP	gnomAD frequency
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)	rs199825346	0.00332
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)	rs185737637	0.00207
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=)	rs375687696	0.00118
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)	rs190259474	0.00085
NM_001190787.3(MCIDAS):c.210G>A (p.Ala70=)	rs775778104	0.00026
NM_001190787.3(MCIDAS):c.606+20G>A	rs777964921	0.00026
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=)	rs751433727	0.00022
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=)	rs756870581	0.00021
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=)	rs1001897568	0.00011
NM_001190787.3(MCIDAS):c.219C>G (p.Ala73=)	rs770934368	0.00009
NM_001190787.3(MCIDAS):c.144C>T (p.Phe48=)	rs1014552272	0.00008
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=)	rs12514445	0.00007
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=)	rs540346120	0.00005
NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=)	rs889420772	0.00004
NM_001190787.3(MCIDAS):c.717+13C>T	rs557504350	0.00004
NM_001190787.3(MCIDAS):c.84G>T (p.Arg28=)	rs898579382	0.00004
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=)	rs748821872	0.00002
NM_001190787.3(MCIDAS):c.121-7C>T	rs557532764	0.00001
NM_001190787.3(MCIDAS):c.218-16C>G	rs1016989420	0.00001
NM_001190787.3(MCIDAS):c.228C>T (p.Thr76=)	rs892066931	0.00001
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=)	rs1377331198	0.00001
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=)	rs997588146	0.00001
NM_001190787.3(MCIDAS):c.606+17G>A	rs1048243355	0.00001
NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=)	rs1420024900	0.00001
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=)	rs1299808054	0.00001
NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=)	rs1256781616	0.00001
NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His)	rs757280816	0.00001
NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=)	rs1047248559	0.00001
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=)
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=)	rs1232343628
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=)
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)
NM_001190787.3(MCIDAS):c.120+8G>C
NM_001190787.3(MCIDAS):c.121-6G>T
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=)
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=)
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=)
NM_001190787.3(MCIDAS):c.218-13_218-6dup	rs771063151
NM_001190787.3(MCIDAS):c.218-15G>C
NM_001190787.3(MCIDAS):c.218-18C>T
NM_001190787.3(MCIDAS):c.218-4G>A
NM_001190787.3(MCIDAS):c.218-7C>A
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=)
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=)
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=)
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=)
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=)
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=)
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=)
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=)
NM_001190787.3(MCIDAS):c.309+7C>G
NM_001190787.3(MCIDAS):c.309+8C>T
NM_001190787.3(MCIDAS):c.309+9C>G
NM_001190787.3(MCIDAS):c.310-11G>T
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=)
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=)
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=)
NM_001190787.3(MCIDAS):c.382+18G>T
NM_001190787.3(MCIDAS):c.382+7G>A
NM_001190787.3(MCIDAS):c.383-10TCT[3]
NM_001190787.3(MCIDAS):c.383-14C>T
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=)	rs1745376296
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=)	rs903733014
NM_001190787.3(MCIDAS):c.606+16T>G
NM_001190787.3(MCIDAS):c.607-12C>T
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=)
NM_001190787.3(MCIDAS):c.717+16G>A	rs2111690430
NM_001190787.3(MCIDAS):c.717+20G>A
NM_001190787.3(MCIDAS):c.718-5C>T
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=)
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=)	rs199825346
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=)
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=)	rs761064821

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