ClinVar Miner

List of variants in gene TMEM165 reported as benign for TMEM165-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018475.5(TMEM165):c.899-15T>C rs7660517 0.33010
NM_018475.5(TMEM165):c.*2_*3del rs35154686 0.29449
NM_018475.5(TMEM165):c.-147T>C rs116687212 0.02961
NM_018475.5(TMEM165):c.*505T>A rs73151843 0.01454
NM_018475.5(TMEM165):c.921T>G (p.Val307=) rs149833286 0.00108
NM_018475.5(TMEM165):c.433+15C>A rs370138167 0.00078
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_018475.5(TMEM165):c.208-5del rs770787680
NM_018475.5(TMEM165):c.208-5dup rs770787680

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