ClinVar Miner

List of variants in gene TMEM165 reported as uncertain significance for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 40
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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.351A>G (p.Ala117=) rs747450377 0.00016
NM_018475.5(TMEM165):c.*236A>G rs548381906 0.00008
NM_018475.5(TMEM165):c.898+3A>G rs369436814 0.00007
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.653C>T (p.Thr218Met) rs147314282 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.731C>T (p.Thr244Ile) rs371595670 0.00002
NM_018475.5(TMEM165):c.*436T>C rs903973357 0.00001
NM_018475.5(TMEM165):c.226G>C (p.Ala76Pro) rs1312894231 0.00001
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys) rs387907222 0.00001
NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln) rs200205156 0.00001
NM_018475.5(TMEM165):c.652A>G (p.Thr218Ala) rs1721802537 0.00001
NM_018475.5(TMEM165):c.811G>A (p.Val271Met) rs764212150 0.00001
NM_018475.5(TMEM165):c.*121T>A rs1722162103
NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)
NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)
NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)
NM_018475.5(TMEM165):c.400A>G (p.Met134Val)
NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)
NM_018475.5(TMEM165):c.464C>G (p.Pro155Arg)
NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)
NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)
NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe) rs2109553145
NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)
NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)
NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)
NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)
NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)
NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA rs2109553419
NM_018475.5(TMEM165):c.811G>T (p.Val271Leu) rs764212150
NM_018475.5(TMEM165):c.824T>C (p.Val275Ala) rs1455810384
NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr) rs2109566525
NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly) rs1310344895
NM_018475.5(TMEM165):c.899-6T>G rs2109568314
NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)
NM_018475.5(TMEM165):c.952A>G (p.Ile318Val) rs1318388651

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