ClinVar Miner

List of variants in gene LOC130061271, MKS1 studied for Meckel syndrome

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_017777.3(MKS1):c.-64T>C rs372127517 0.00325
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_017777.4(MKS1):c.80+14C>T rs761061379 0.00027
NM_017777.4(MKS1):c.-15C>G rs541448010 0.00021
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp) rs1386455261 0.00004
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00004
NM_017777.4(MKS1):c.30C>T (p.Thr10=) rs576239597 0.00003
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.46C>T (p.Arg16Cys) rs1011348762 0.00001
NM_017777.4(MKS1):c.51C>T (p.Ser17=) rs1348163172 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_017777.3(MKS1):c.-34_-12del23 rs1244307754
NM_017777.4(MKS1):c.-20C>G rs115507363
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala) rs928775924
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)
NM_017777.4(MKS1):c.2T>A (p.Met1Lys)
NM_017777.4(MKS1):c.2T>C (p.Met1Thr)
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)
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) rs375223375
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=)
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
NM_017777.4(MKS1):c.47G>A (p.Arg16His) rs1969447926
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)
NM_017777.4(MKS1):c.50_54dup (p.Asp19fs) rs730880323
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
NM_017777.4(MKS1):c.60C>T (p.Pro20=)
NM_017777.4(MKS1):c.62T>G (p.Val21Gly)
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
NM_017777.4(MKS1):c.80+10C>T
NM_017777.4(MKS1):c.80+11C>G
NM_017777.4(MKS1):c.80+11del
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+16C>T
NM_017777.4(MKS1):c.80+17A>G
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.80+4G>A
NM_017777.4(MKS1):c.80+6C>T
NM_017777.4(MKS1):c.80+7G>T

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