ClinVar Miner

List of variants in gene LOC129992613, TMEM165 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_018475.5(TMEM165):c.18A>G (p.Pro6=) rs1128141 0.71943
NM_018475.5(TMEM165):c.96G>T (p.Arg32=) rs769539033 0.00090
NM_018475.5(TMEM165):c.204C>G (p.Val68=) rs558601598 0.00059
NM_018475.5(TMEM165):c.52C>A (p.Leu18Met) rs756276628 0.00026
NM_018475.5(TMEM165):c.54G>A (p.Leu18=) rs376472202 0.00021
NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp) rs768223101 0.00004
NM_018475.5(TMEM165):c.207+16T>C rs1019093638 0.00003
NM_018475.5(TMEM165):c.30C>G (p.Arg10=) rs1211858023 0.00002
NM_018475.5(TMEM165):c.124C>T (p.Arg42Trp) rs1036333511 0.00001
NM_018475.5(TMEM165):c.138G>A (p.Pro46=) rs2545476640 0.00001
NM_018475.5(TMEM165):c.15T>C (p.Ala5=) rs764693617 0.00001
NM_018475.5(TMEM165):c.163C>G (p.Pro55Ala) rs995046403 0.00001
NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser) rs1018878795 0.00001
NM_018475.5(TMEM165):c.43C>T (p.Arg15Trp) rs900598742 0.00001
NM_018475.5(TMEM165):c.63G>C (p.Leu21=) rs746908576 0.00001
NM_018475.5(TMEM165):c.97G>A (p.Ala33Thr) rs1021277116 0.00001
NM_018475.5(TMEM165):c.123C>T (p.His41=) rs2545476594
NM_018475.5(TMEM165):c.143C>T (p.Ala48Val) rs569903895
NM_018475.5(TMEM165):c.156G>A (p.Gln52=)
NM_018475.5(TMEM165):c.164C>A (p.Pro55Gln) rs1436584785
NM_018475.5(TMEM165):c.170C>T (p.Pro57Leu)
NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg) rs2545476408
NM_018475.5(TMEM165):c.183G>A (p.Gln61=)
NM_018475.5(TMEM165):c.185G>T (p.Gly62Val) rs1475649772
NM_018475.5(TMEM165):c.189C>G (p.Pro63=)
NM_018475.5(TMEM165):c.189C>T (p.Pro63=)
NM_018475.5(TMEM165):c.191A>G (p.Glu64Gly) rs1720726251
NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser) rs1050707381
NM_018475.5(TMEM165):c.207+3G>A rs1720727389
NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp) rs1187840985
NM_018475.5(TMEM165):c.41C>T (p.Pro14Leu) rs2109509637
NM_018475.5(TMEM165):c.46C>T (p.Leu16=)
NM_018475.5(TMEM165):c.81C>T (p.Ala27=)
NM_018475.5(TMEM165):c.82C>G (p.Pro28Ala) rs2545476529
NM_018475.5(TMEM165):c.8C>T (p.Ala3Val) rs770675509
NM_018475.5(TMEM165):c.92T>C (p.Val31Ala) rs1720719387

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