ClinVar Miner

List of variants in gene TMEM165 studied for bone development disease

Included ClinVar conditions (588):
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Gene type:
ClinVar version:
Total variants: 94
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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.294C>T (p.Val98=) rs11542641 0.00191
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.603T>C (p.Asp201=) rs145661285 0.00076
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_018475.5(TMEM165):c.899-17T>A rs200798470 0.00011
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.816T>G (p.Gly272=) rs372064871 0.00006
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.930G>A (p.Ala310=) rs368593849 0.00005
NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr) rs150519910 0.00004
NM_018475.5(TMEM165):c.653C>T (p.Thr218Met) rs147314282 0.00004
NM_018475.5(TMEM165):c.793-13C>T rs531975275 0.00004
NM_018475.5(TMEM165):c.899-11C>G rs117175578 0.00004
NM_018475.5(TMEM165):c.792+182G>A rs793888506 0.00003
NM_018475.5(TMEM165):c.793-12G>A rs372776107 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.660A>C (p.Thr220=) rs762748207 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.208-15A>T
NM_018475.5(TMEM165):c.208-16G>A
NM_018475.5(TMEM165):c.208-5del rs770787680
NM_018475.5(TMEM165):c.208-5dup rs770787680
NM_018475.5(TMEM165):c.208-9T>G
NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)
NM_018475.5(TMEM165):c.232G>A (p.Val78Ile)
NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)
NM_018475.5(TMEM165):c.288A>T (p.Ala96=)
NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)
NM_018475.5(TMEM165):c.377G>A (p.Arg126His) rs387907221
NM_018475.5(TMEM165):c.384C>T (p.Thr128=)
NM_018475.5(TMEM165):c.400A>G (p.Met134Val)
NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)
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.464C>G (p.Pro155Arg)
NM_018475.5(TMEM165):c.495A>G (p.Val165=)
NM_018475.5(TMEM165):c.507T>A (p.Ile169=) rs191176116
NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)
NM_018475.5(TMEM165):c.609+7C>T
NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)
NM_018475.5(TMEM165):c.639G>A (p.Pro213=)
NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe) rs2109553145
NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)
NM_018475.5(TMEM165):c.723T>C (p.Leu241=)
NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)
NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)
NM_018475.5(TMEM165):c.777A>G (p.Val259=)
NM_018475.5(TMEM165):c.778T>C (p.Leu260=)
NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)
NM_018475.5(TMEM165):c.792+11T>A
NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA rs2109553419
NM_018475.5(TMEM165):c.793-16dup
NM_018475.5(TMEM165):c.810C>T (p.Ala270=)
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.831C>T (p.His277=)
NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr) rs2109566525
NM_018475.5(TMEM165):c.837G>A (p.Leu279=)
NM_018475.5(TMEM165):c.849G>A (p.Leu283=)
NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly) rs1310344895
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.899-16_899-14del
NM_018475.5(TMEM165):c.899-16_899-15insCT
NM_018475.5(TMEM165):c.899-6T>G rs2109568314
NM_018475.5(TMEM165):c.899-9C>G
NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg) rs886037631
NM_018475.5(TMEM165):c.918C>T (p.Ile306=)
NM_018475.5(TMEM165):c.925T>C (p.Leu309=)
NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)
NM_018475.5(TMEM165):c.936A>G (p.Ala312=)
NM_018475.5(TMEM165):c.952A>G (p.Ile318Val) rs1318388651

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