ClinVar Miner

List of variants in gene combination DNAAF5, PRKAR1B reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.477G>A (p.Ala159=) rs78581255 0.00199
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu) rs1031852692 0.00090
NM_017802.4(DNAAF5):c.27C>T (p.Ala9=) rs557885420 0.00024
NM_017802.4(DNAAF5):c.282G>A (p.Ala94=) rs887811765 0.00015
NM_017802.4(DNAAF5):c.456C>G (p.Ala152=) rs769656987 0.00014
NM_017802.4(DNAAF5):c.447G>C (p.Leu149=) rs969984227 0.00009
NM_017802.4(DNAAF5):c.495C>T (p.Asp165=) rs1167742655 0.00004
NM_017802.4(DNAAF5):c.426C>T (p.Arg142=) rs1464201003 0.00002
NM_017802.4(DNAAF5):c.324G>C (p.Ala108=) rs1241458505 0.00001
NM_017802.4(DNAAF5):c.421C>T (p.Leu141=) rs1583468117 0.00001
NM_017802.4(DNAAF5):c.474C>T (p.Ala158=) rs909306243 0.00001
NM_017802.4(DNAAF5):c.15G>C (p.Gly5=) rs1457734920
NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)
NM_017802.4(DNAAF5):c.298C>T (p.Leu100=) rs1583467930
NM_017802.4(DNAAF5):c.309C>A (p.Gly103=)
NM_017802.4(DNAAF5):c.30G>A (p.Val10=) rs878855037
NM_017802.4(DNAAF5):c.315C>T (p.Arg105=) rs1583467957
NM_017802.4(DNAAF5):c.333C>G (p.Arg111=)
NM_017802.4(DNAAF5):c.339C>T (p.Ala113=)
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)
NM_017802.4(DNAAF5):c.351G>A (p.Leu117=)
NM_017802.4(DNAAF5):c.357C>T (p.Pro119=)
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)
NM_017802.4(DNAAF5):c.384C>G (p.Pro128=) rs2128538410
NM_017802.4(DNAAF5):c.387G>A (p.Val129=)
NM_017802.4(DNAAF5):c.432G>T (p.Ala144=)
NM_017802.4(DNAAF5):c.465G>A (p.Leu155=)
NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)
NM_017802.4(DNAAF5):c.582G>T (p.Ala194=)
NM_017802.4(DNAAF5):c.595+13G>A
NM_017802.4(DNAAF5):c.595+14G>A
NM_017802.4(DNAAF5):c.595+15C>T
NM_017802.4(DNAAF5):c.595+8C>T

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