ClinVar Miner

List of variants in gene MCIDAS studied for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=) rs6879219 0.52860
NM_001190787.3(MCIDAS):c.120+3G>A rs186341559 0.00332
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp) rs199825346 0.00332
NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=) rs188932912 0.00245
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys) rs185737637 0.00207
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu) rs181843638 0.00127
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=) rs375687696 0.00118
NM_001190787.3(MCIDAS):c.93C>G (p.Leu31=) rs577029897 0.00102
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) rs190259474 0.00085
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val) rs539275390 0.00048
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.1040C>T (p.Ser347Phe) rs561481156 0.00022
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.301G>T (p.Ala101Ser) rs921264958 0.00014
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.364G>C (p.Val122Leu) rs1051677967 0.00007
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.165C>G (p.Ser55Arg) rs1031493457 0.00003
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=) rs748821872 0.00002
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His) rs939457499 0.00001
NM_001190787.3(MCIDAS):c.121-7C>T rs557532764 0.00001
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile) rs896487065 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.277G>C (p.Ala93Pro) rs115971569 0.00001
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=) rs1377331198 0.00001
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala) rs1439093107 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.682G>T (p.Ala228Ser) rs533613049 0.00001
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=) rs1299808054 0.00001
NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=) rs372120150 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.964G>A (p.Ala322Thr) rs113717721 0.00001
NC_000005.9:g.(?_54518759)_(54518871_?)del
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly) rs1745333319
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
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.1054A>C (p.Ile352Leu) rs1561114463
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu) rs1561114448
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg)
NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp) rs797045151
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala)
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His) rs797045152
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile) rs1745327756
NM_001190787.3(MCIDAS):c.120+2dup
NM_001190787.3(MCIDAS):c.120+8G>C
NM_001190787.3(MCIDAS):c.121-19C>A rs181955833
NM_001190787.3(MCIDAS):c.121-6G>T
NM_001190787.3(MCIDAS):c.135del (p.Lys46fs) rs1561117442
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu) rs2111703044
NM_001190787.3(MCIDAS):c.149del (p.Gly50fs)
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=)
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=)
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu)
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=)
NM_001190787.3(MCIDAS):c.217+3G>A
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.226A>G (p.Thr76Ala)
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=)
NM_001190787.3(MCIDAS):c.235del (p.Leu79fs) rs2111702150
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=)
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg)
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp)
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala) rs1745458730
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr)
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.326C>T (p.Thr109Met) rs1484403354
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.382G>A (p.Asp128Asn)
NM_001190787.3(MCIDAS):c.383-10TCT[3]
NM_001190787.3(MCIDAS):c.383-14C>T
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly) rs759891799
NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter) rs777031813
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=) rs1745376296
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)
NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro) rs1454466899
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly)
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys)
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=) rs903733014
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu) rs2111692918
NM_001190787.3(MCIDAS):c.606+16T>G
NM_001190787.3(MCIDAS):c.607-12C>T
NM_001190787.3(MCIDAS):c.607-13T>G
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)
NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter) rs1745348853
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly) rs878854270
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser) rs1554019120
NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs)
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.717+2T>G rs1580402818
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
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu) rs1207441843
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu)

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