ClinVar Miner

List of variants in gene LRRC56 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_198075.4(LRRC56):c.1182-22T>C rs3740652 0.89233
NM_198075.4(LRRC56):c.*23C>G rs10902172 0.89042
NM_198075.4(LRRC56):c.423+30C>G rs11246180 0.85979
NM_198075.4(LRRC56):c.1567G>C (p.Asp523His) rs10902171 0.79385
NM_198075.4(LRRC56):c.384C>T (p.Leu128=) rs7942030 0.77229
NM_198075.4(LRRC56):c.899G>A (p.Arg300His) rs4963198 0.59216
NM_198075.4(LRRC56):c.729G>A (p.Pro243=) rs35537971 0.20649
NM_198075.4(LRRC56):c.655G>A (p.Val219Met) rs138291757 0.00885
NM_198075.4(LRRC56):c.544C>A (p.Gln182Lys) rs61736743 0.00647
NM_198075.4(LRRC56):c.35G>A (p.Arg12Gln) rs2277269 0.00533
NM_198075.4(LRRC56):c.1291T>A (p.Ser431Thr) rs149919024 0.00210
NM_198075.4(LRRC56):c.424-9G>A rs201091147 0.00147
NM_198075.4(LRRC56):c.972T>C (p.His324=) rs199784204 0.00026
NM_198075.4(LRRC56):c.53_55del (p.Val18_Arg19delinsGly) rs759014538 0.00021
NM_198075.4(LRRC56):c.760G>T (p.Glu254Ter) rs372959912 0.00003
NM_198075.4(LRRC56):c.1400G>A (p.Arg467Gln) rs12793222
NM_198075.4(LRRC56):c.1519C>G (p.Arg507Gly) rs10902170
NM_198075.4(LRRC56):c.159C>A (p.Tyr53Ter)
NM_198075.4(LRRC56):c.326+1G>A rs1564800859
NM_198075.4(LRRC56):c.419T>C (p.Leu140Pro) rs1564805039
NM_198075.4(LRRC56):c.423+1G>A rs1564805053
NM_198075.4(LRRC56):c.494T>C (p.Leu165Pro)

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