ClinVar Miner

List of variants in gene LOC130061271, MKS1 studied for Joubert syndrome; Meckel-Gruber syndrome

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00079
NM_017777.4(MKS1):c.80+14C>T rs761061379 0.00027
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00006
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp) rs1386455261 0.00004
NM_017777.4(MKS1):c.30C>T (p.Thr10=) rs576239597 0.00003
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) rs375223375 0.00002
NM_017777.4(MKS1):c.79C>T (p.Arg27Ter) rs1161451203 0.00002
NM_017777.4(MKS1):c.30C>A (p.Thr10=) rs576239597 0.00001
NM_017777.4(MKS1):c.45T>C (p.Tyr15=) rs1969448100 0.00001
NM_017777.4(MKS1):c.46C>T (p.Arg16Cys) rs1011348762 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.64C>A (p.Arg22Ser) rs1031187314 0.00001
NM_017777.4(MKS1):c.80+18G>A rs775676586 0.00001
NM_017777.4(MKS1):c.80+6C>T rs1397235654 0.00001
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala) rs928775924
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter) rs2509469673
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn) rs1275193064
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser) rs754729482
NM_017777.4(MKS1):c.2T>A (p.Met1Lys) rs1364950881
NM_017777.4(MKS1):c.2T>C (p.Met1Thr) rs1364950881
NM_017777.4(MKS1):c.30C>G (p.Thr10=) rs576239597
NM_017777.4(MKS1):c.31G>C (p.Gly11Arg) rs762103206
NM_017777.4(MKS1):c.31G>T (p.Gly11Trp) rs762103206
NM_017777.4(MKS1):c.34G>T (p.Glu12Ter) rs1183365510
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu) rs1969448667
NM_017777.4(MKS1):c.39A>G (p.Ala13=) rs2509469469
NM_017777.4(MKS1):c.47G>A (p.Arg16His) rs1969447926
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe) rs2509469384
NM_017777.4(MKS1):c.51C>T (p.Ser17=) rs1348163172
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln) rs2509469359
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.4(MKS1):c.60C>A (p.Pro20=) rs1451699674
NM_017777.4(MKS1):c.60C>T (p.Pro20=) rs1451699674
NM_017777.4(MKS1):c.62T>G (p.Val21Gly) rs1376789752
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr) rs2509469213
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser) rs2509469213
NM_017777.4(MKS1):c.69C>T (p.Asn23=) rs2509469206
NM_017777.4(MKS1):c.80+10C>T rs1376581454
NM_017777.4(MKS1):c.80+11C>G rs1197917780
NM_017777.4(MKS1):c.80+11del rs2509469032
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+15C>G
NM_017777.4(MKS1):c.80+16C>T rs2509468962
NM_017777.4(MKS1):c.80+17A>G rs2509468958
NM_017777.4(MKS1):c.80+4G>A rs2509469085
NM_017777.4(MKS1):c.80+7G>T rs2143842574
NM_017777.4(MKS1):c.80+9A>G

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