ClinVar Miner

List of variants in gene TMEM165 reported as likely benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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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.603T>C (p.Asp201=) rs145661285 0.00076
NM_018475.5(TMEM165):c.899-17T>A rs200798470 0.00011
NM_018475.5(TMEM165):c.816T>G (p.Gly272=) rs372064871 0.00006
NM_018475.5(TMEM165):c.930G>A (p.Ala310=) rs368593849 0.00005
NM_018475.5(TMEM165):c.793-13C>T rs531975275 0.00004
NM_018475.5(TMEM165):c.793-12G>A rs372776107 0.00003
NM_018475.5(TMEM165):c.660A>C (p.Thr220=) rs762748207 0.00001
NM_018475.5(TMEM165):c.208-15A>T
NM_018475.5(TMEM165):c.208-16G>A
NM_018475.5(TMEM165):c.384C>T (p.Thr128=)
NM_018475.5(TMEM165):c.427T>C (p.Leu143=)
NM_018475.5(TMEM165):c.433+17C>T
NM_018475.5(TMEM165):c.433+7G>A
NM_018475.5(TMEM165):c.434-11A>G rs2109551814
NM_018475.5(TMEM165):c.462C>A (p.Ile154=)
NM_018475.5(TMEM165):c.495A>G (p.Val165=)
NM_018475.5(TMEM165):c.507T>A (p.Ile169=) rs191176116
NM_018475.5(TMEM165):c.609+7C>T
NM_018475.5(TMEM165):c.639G>A (p.Pro213=)
NM_018475.5(TMEM165):c.723T>C (p.Leu241=)
NM_018475.5(TMEM165):c.777A>G (p.Val259=)
NM_018475.5(TMEM165):c.778T>C (p.Leu260=)
NM_018475.5(TMEM165):c.793-16dup
NM_018475.5(TMEM165):c.831C>T (p.His277=)
NM_018475.5(TMEM165):c.849G>A (p.Leu283=)
NM_018475.5(TMEM165):c.898+16T>C
NM_018475.5(TMEM165):c.898+19A>C
NM_018475.5(TMEM165):c.898+8T>A
NM_018475.5(TMEM165):c.899-14T>C
NM_018475.5(TMEM165):c.899-14TC[3] rs563916696
NM_018475.5(TMEM165):c.899-9C>G

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