ClinVar Miner

List of variants reported as uncertain significance for TMEM165-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018475.5(TMEM165):c.294C>T (p.Val98=) rs11542641 0.00191
NM_018475.5(TMEM165):c.433+15C>A rs370138167 0.00078
NM_018475.5(TMEM165):c.52C>A (p.Leu18Met) rs756276628 0.00026
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_018475.5(TMEM165):c.*236A>G rs548381906 0.00008
NM_018475.5(TMEM165):c.*627A>C rs541192339 0.00005
NM_018475.5(TMEM165):c.602A>G (p.Asp201Gly) rs372893311 0.00005
NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp) rs768223101 0.00004
NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr) rs150519910 0.00003
NM_018475.5(TMEM165):c.*643A>G rs1043302976 0.00002
NM_018475.5(TMEM165):c.*436T>C rs903973357 0.00001
NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln) rs200205156 0.00001
NM_018475.5(TMEM165):c.*121T>A rs1722162103
NM_018475.5(TMEM165):c.92T>C (p.Val31Ala) rs1720719387

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